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American Society of Human Genetics - San Diego - October 18-22, 2014 Contact Search
 

Workshops and Trainee Events

 

ASHG, through its Training and Development Committee, Information and Education Committee, Board of Directors, and Education Department, strives to offer varied and relevant programming at each Annual Meeting that is specific to trainee needs and interests. In addition, ASHG offers significant awards for trainee members via the ASHG/Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research, presented at each Annual Meeting.

 

The Value of Attending ASHG 2014: Return on Investment (ROI) Toolkit

2013 ASHG Trainee-Mentor Luncheon

Make a strong case for attending ASHG 2014 in San Diego by explicitly connecting your institution's goals, as well as your work and professional development, to the educational opportunities offered by the scientific sessions, workshops, posters, and exhibitors at ASHG 2014. Use the templates below to document the specific return your institution gets from investing in your ASHG experience.

 

Click here for and a sample letter/value of attending worksheet you can give to your department head.

  • Focus on what you will bring back to your home institution (lab, department, university, hospital, etc.)

    • Identify sessions tied to your home institution’s goals as well as sessions related to your work and professional development

    • Identify exhibiting companies and workshops that have importance to your home institution/career development

    • Identify networking and collaboration opportunities

  • Prepare a budget with cost saving strategies: register early, share a room, explore best flight options and daily meal budget, etc.

 

Click here for sample tracking report templates.

  • Document key takeaways from the sessions and workshops you attend, as well as the posters and exhibits you visit

  • Prepare a Conference Report to share highlights with your colleagues and to justify the investment by your institution

 


 

 Please check back regularly for updates! 

 

Saturday, October 18

8:00 am – 4:00 pm

ASHG Undergraduate Faculty Genetics Education Workshop - $25 USD

Do you teach undergraduate genetics? Share what you know and learn from others.

Advance registration required. Registration is independent of registration for the 2014 ASHG Annual Meeting and will open in July 2014. Limited to 50 participants.

 

This special session for faculty and other instructors of undergraduate students is organized by the ASHG Undergraduate Faculty Subcommittee before the commencement of the annual meeting. Join us for pedagogy and content sessions addressing issues in undergraduate genetics education. Trainees serving as teaching assistants or interested in teaching are encouraged to attend. Click here for more information.

 

The cost of the workshop includes breakfast and lunch. For questions, contact Katherine Lontok, klontok@ashg.org.

 

Room 24A/B, Upper Level

 

 

2:30 pm - 4:00 pm

Ensembl Highlights (Intermediate/Advanced Workshop) - $25 USD

Separate advance registration is required. Please check the appropriate box on the meeting registration form.

 

Workshop requirements: Laptops are not required to participate but can enhance the learning experience. If you do bring your laptop, please ensure you have full battery power and a wireless card for accessing the Wi-Fi.

 

The Ensembl Highlights workshop will be presented by Emily Pritchard, Ensembl Outreach Officer and Paul Flicek, Senior Scientist and Team Leader of EBI's Vertebrate Genomics. It is aimed at attendees already using Ensembl, including the bioinformatics community. Highlights from the last year include the newest human assembly, GRCh38, updated annotation, and improved access to these data.

 

Interpreting the large-scale sequence variation and gene regulation data sets typical of modern genomics research requires an integrated interface to access genomic information. Ensembl (www.ensembl.org) provides this interface and an infrastructure for genomic information covering over 70 species, with a focus on human and model organism genomics. New and improved Ensembl functionality in 2014 reflects advances in the underlying genomic resources. We will provide the following as hands-on demonstrations: • Use of the Variant Effect Predictor (VEP), our most popular tool, to analyse a set of variants from sequencing of an individual genome. (20 min) • An introduction to our new BLAST/BLAT interface enabling improved sequence searching across multiple genomes. (10 min) • Methods to access promoters, enhancers, and other features from a new regulatory build that integrates data from ENCODE, Blueprint, and other sources, along with updated displays. (20 min) • A high-throughput analysis example using our REST API, which provides a programmatic interface to our data sets in addition to the ability to annotate 1000 variations per second, submit multiple queries simultaneously and extract genomic information. (20 min) We will end with a discussion session where our users are invited to bring existing questions. Total workshop time 90 minutes.

 

 

Seating is limited and may be reserved only by registering in advance, so please register early. Refreshments are included in the $25 USD registration fee. Tickets will be issued along with your meeting badge. Tickets are non-refundable.

 

Room 31A/B, Upper Level
2:30 pm - 4:00 pm

Introduction to Accessing and Applying ENCODE Data: An Interactive Workshop - $25 USD

Separate advance registration is required. Please check the appropriate box on the meeting registration form.

 

 

Workshop requirements: You must bring your laptop. Your laptop should have full battery power and must have a wireless card.

 

This workshop is organized and will be presented by members of the ENCODE Consortium and the ENCODE DCC: Eurie Hong (Stanford University), J. Seth Strattan (Stanford University), Luke Ward (MIT), Richard Sandstrom(University of Washington), and Mark Gerstein (Yale Univesity). This introductory workshop is intended for a diverse audience. The Encyclopedia of DNA Elements (ENCODE) Project is a collaborative effort to create a comprehensive catalog of functional elements in the human and mouse genomes. To date, the project has generated and analyzed over 3500 datasets in over 400 cell lines and tissues using more than 40 experimental techniques surveying DNA-binding proteins, RNA-binding proteins, the transcriptional landscape, and chromatin structure. As the volume of data increases, the identification of data sets relevant to a researcher becomes challenging. In this workshop we will introduce the curated metadata that describe the ENCODE, modENCODE, and Roadmap Epigenomics datasets. We will also introduce web-based tools for accessing these resources. Workshop attendees will get hands-on experience using these resources to: (1) search for datasets using the new ENCODE portal https://www.encodeproject.org/(2) visualize selected data on a browser such as the ENSEMBL browser or UCSC Genome Browser (3) annotate non-coding variants based on integrated analyses of these datasets (4) generate hypotheses about the regulation of a gene of interest or regulatory impact of a non-coding variant using ENCODE data. This workshop will educate researchers, clinicians, and genetic counselors how to use ENCODE data to generate hypotheses for further biological investigation.

 

Seating is limited and may be reserved only by registering in advance, so please register early. Refreshments are included in the $25 USD registration fee. Tickets will be issued along with your meeting badge. Tickets are non-refundable.

Room 32A/B, Upper Level
 

Sunday, October 19

7:00 am - 8:00 am

ASHG Trainee Peer Networking Breakfast - $15 USD

Meet other trainees over coffee and breakfast! New this year!

Separate advance registration is required. Open to trainee registrants only. Please check the appropriate box on the meeting registration form.

 

New this year, this event gives you dedicated time to network with other meeting attendees at similar stages in their careers. Meet potential collaborators, make new friends, and participate in an icebreaker game to be entered to win prizes! 

 

Seating is limited and may be reserved only by registering in advance, so please register early. Breakfast is included in the $15 USD registration fee. Tickets will be issued along with your meeting badge. Tickets are non-refundable.

 

Room 25ABC, Upper Level
11:00 am – 7:00 pm

ASHG/FASEB Career Resources - FREE

Coaches will be available one-on-one to provide attendees free career guidance, interview tips, and to critique resumes or CVs. Stop by to make your appointment!

 

Exhibit Hall, Booth 1533
11:00 am - 7:00 pm

ASHG Trainee Lounge - FREE

Mingle with other trainees! New this year!

 

 

This trainee-dedicated area is specifically designed for our early career attendees and provides an additional opportunity to network, discuss poster and session highlights, and relax away from the excitement of the meeting. Trainee members of ASHG committees will be available at designated times to answer any questions and explain the opportunities ASHG has to offer trainees at the meeting and beyond.  

 

Exhibit Hall, Booth 1805

 
12:00 pm – 1:30 pm

ASHG Trainee-Mentor Luncheon - $25 USD

Don’t miss this chance to network with mentors in your field.

Separate advance registration is required. Open to trainee registrants only. Please check the appropriate box on the meeting registration form.

 

The Trainee-Mentor Luncheon will have a slightly different format this year, allowing trainees to meet and talk informally with two mentors (representing different career stages) about career options, goals, and professional opportunities. Tables will be organized by topic categories, such as bioinformatics and genomic technology, clinical genetics and dysmorphology, and epigenetics. The luncheon is held at the beginning of the meeting so that trainees can continue their discussions with these mentors at other times during the course of the meeting.

The preliminary list of participating mentors can be found here.

 

Seating is limited and may be reserved only by registering in advance, so please register early. Lunch is included in the $25 USD registration fee. Tickets will be issued along with your meeting badge. Tickets are non-refundable.

 

Room 25ABC, Upper Level
12:00 pm – 1:30 pm

ASHG Trainee Professional Development Program - FREE

Two 45-minute sessions on topics relevant to the professional development of trainees will be offered. 

 

This session is organized by the ASHG Training and Development Committee, which is composed of trainees and focuses on trainee issues. The format will consist of two independent, 45-minute workshops presented by FASEB Career Services and held in the Professional Development Theater on the Exhibition Hall floor. Trainees may choose to attend one or both workshops within this session.

 

12:00 pm- How to Choose Your Ideal Career, presented by Bill Lindstaedt. Here you will learn about a logical, step-by-step process for exploring your career options and deciding which will provide the best fit for your skills, values, and interests.

 

12:45 pm- Nailing the Job Talk & Interview Prep, presented by Andrew Green. Going Live: Conference Interviews, On-Campus Interviews, The All-Important Job Talk, and Negotiating the Offer.

 

 Space is limited to 50 participants per workshop, on a first come, first served basis

 

Exhibit Hall, Professional Development Theater
12:00 pm – 1:30 pm

Epigenomic Annotation of Genetic Variants Using The Washington University Epigenome Browser - $25 USD

Separate advance registration is required. Please check the appropriate box on the meeting registration form.

 

Workshop requirements: You must bring your laptop. Your laptop should have full battery power and must have a wireless card.

 

This workshop is organized and will be presented by Ting Wang (Washington University), Xin Zhou (Washington University) and Rebecca Lowdon (Washington University). Advances in next-generation sequencing platforms have reshaped the landscape of genomic and epigenomic research as well as human genetics studies. Annotating the non-coding, regulatory genome with genomic and epigenomic data has provided new venues to interpret the functional consequences of genetic variants associated with human complex traits. Large consortiums such as ENCODE and Roadmap Epigenomics project have generated tens of thousands sequencing-based genome-wide datasets, creating a reference and resource for the scientific community. There is a great need for investigators to effectively engage with this resource in the context of analyzing investigators’ own data. This interactive workshop will introduce The WashU Human Epigenome Browser and associated tools (http://epigenomegateway.wustl.edu/). The Epigenome Browser hosts ENCODE data and Human Epigenome Atlas data produced by the Roadmap Epigenomics project, and supports navigation of the data and its interactive visualization, integration, comparison, and analysis. Attendees will gain hands-on experience with exploring the most current epigenomic resources, and with advanced visual-bioinformatics tools including gene set view, genome juxtaposition, and chromatin-interaction display, inventions unique to the WashU Epigenome Browser. Through specific examples the workshop will demonstrate the power of annotating genetic variants with epigenomic data, and how it can be easily achieved with the Epigenome Browser.

 

Seating is limited and may be reserved only by registering in advance, so please register early. Lunch is included in the $25 USD registration fee. Tickets will be issued along with your meeting badge. Tickets are non-refundable.

 

Room 32A/B, Upper Level
12:00 pm – 1:30 pm

Diagnostic Challenges: Review and Discussion of Unique Cases - $25 USD

Separate advance registration is required. Please check the appropriate box on the meeting registration form.

 

Diagnostic Challenges is organized and moderated by Karen W. Gripp (A. I. duPont Hospital for Children). The session provides an opportunity for registrants to bring and present cases (rare and unknown) to a panel of expert clinical geneticists (see below) for discussion of differential diagnosis, treatment and counseling options. The session provides a lively give-and-take discussion in an informal environment between the audience and the panel as each case is presented. Audience participation in suggesting diagnosis or testing is encouraged.

 

 

Panelists

Areas of Expertise/Special Interest

Cynthia Curry Dysmorphology
Bill Dobyns Brain Malformations
Andrea Superti-Furga   Skeletal Dysplasias
Karen Gripp Rasopathies; Dysmorphology
Micheil Innes Dysmorphology
Marilyn Jones Craniofacial Anomalies
Stephen Kahler Metabolic Disorders
Pedro Sanchez Dysmorphology; Databases
Anne Slavotinek Eye Malformation; Diaphragmatic Hernia
Alain Verloes Dysmorphology

 

 

Call for Cases: Cases may be diagnostic dilemmas, or consultation may be sought for confirmation of a suspected diagnosis. We urge attendees to submit their rare and unknown cases to the organizers via email (diagnostic.dilemmas@gmail.com) in advance of the session. You can submit more than one case, but second cases will only be presented if there is enough time.

 

Each case will be presented using PowerPoint, with a limit of six slides and three minutes per presentation. Best suited are “visuals” with plenty of images. Any slides depicting patient information or images must have the consent of the patient. It is each presenter’s responsibility to obtain consent prior to sharing identifiable information. The discussion by the expert panel will follow the presentation. Discussion will be limited to 5 minutes.

 

If you have questions about the workshop, contact Karen Gripp via email at kgripp@nemours.org.

 

Seating is limited and may be reserved only by registering in advance, so please register early. Lunch is included in the $25 USD registration fee. Tickets will be issued along with your meeting badge. Tickets are non-refundable.

Room 2, Upper Level
 

Monday, October 20

10:00 am – 4:00 pm

ASHG/FASEB Career Resources - FREE

Coaches will be available one-on-one to provide attendees free career guidance, interview tips, and to critique resumes or CVs. Stop by to make your appointment!

 

Exhibit Hall, Booth 1533
10:00 am - 4:00 pm

ASHG Trainee Lounge - FREE

Mingle with other trainees! New this year!

 

 

This trainee-dedicated area is specifically designed for our early career attendees and provides an additional opportunity to network, discuss poster and session highlights, and relax away from the excitement of the meeting. Trainee members of ASHG committees will be available at designated times to answer any questions and explain the opportunities ASHG has to offer trainees at the meeting and beyond.  

 

Exhibit Hall, Booth 1805

12:30 pm – 2:00 pm

ASHG Trainee Professional Development Program - FREE

Two 45-minute sessions on topics relevant to the professional development of trainees will be offered.   

 

This session is organized by the ASHG Training and Development Committee, which is composed of trainees and focuses on trainee issues. The format will consist of two independent, 45-minute workshops presented by FASEB Career Services held in the Professional Development Theater on the Exhibition Hall floor.   Trainees may choose to attend one or both workshops within this session.

 

12:30 pm- Nailing the Job Talk & Interview Prep, presented by Andrew Green. Going Live: Conference Interviews, On-Campus Interviews, The All-Important Job Talk, and Negotiating the Offer.

 

1:15 pm- Negotiating Strategies for Scientists, presented by Debra Behrens. This workshop introduces effective methods of negotiating with potential employers. Topics: The basic elements of successful negotiation, contexts of gender and culture, avoiding common pitfalls, leveraging your strengths, handling multiple offers, and closing the deal.

 

 Space is limited to 50 participants per workshop, on a first come, first served basis

 

Exhibit Hall, Professional Development Theater
12:45 pm - 1:45 pm Poster Walks I - FREE

Separate advance registration is required. Open to ASHG trainee members only. Please check the appropriate box on the meeting registration form.

 

New this year, three posters from four different topic areas (listed below) will be presented in poster walks led by prominent scientists in the field. The leader of each walk will select the posters in August and during the walks will offer context, as well as highlight some of the more significant and thought-provoking aspects of the research. Poster authors will be informed of the selection in September. Poster authors are not required to be at their posters during the walks but will be invited to a poster walk orientation to discuss their work with the leader. Note that due to the very limited number of spots, registrants may only register for one poster walk across both sessions.

 

Monday Topics 

Bioinformatics and Genomic Technology: Ross Hardison

Clinical Genetics and Dysmorphology: Judy Hall

Clinical Genetic Testing: David Ledbetter

Epigenetics: Haig Kazazian

 

 

Seating is limited and may be reserved only by registering in advance, so please register early. Poster walks are open to ASHG trainee members only.

 
Exhibit Hall
12:30 pm - 2:00 pm Behind the Scenes: Mock NIH Study Section Workshop - $25 USD

Separate advance registration is required. Please check the appropriate box on the meeting registration form.

 

Did you ever wonder what really happens in study section meetings and how proposals get discussed? In this workshop, attendees will have the opportunity to work with NIH staff to learn about the proposal review process, including the typical dynamics of study section deliberations. The NIH streamlining process will be demonstrated, and the workshop will present examples of mistakes applicants commonly make. Real F31 and F32 applications will be used. Staff from NIH's Center for Scientific Review will lead the session.

 

Seating is limited and may be reserved only by registering in advance, so please register early. Lunch is included in the $25 USD registration fee. Tickets will be issued along with your meeting badge. Tickets are non-refundable.

 

Room 25ABC, Upper Level
12:30 pm – 2:00 pm

iSeqTools to Demistify the Cloud and Genomics Analysis for Researchers Seeking Ways to Analyze High-Throughput DNA Sequencing Data - $25 USD

Separate advance registration is required. Please check the appropriate box on the meeting registration form.

 

Workshop requirements: You must bring your laptop. Your laptop should have full battery power and must have a wireless card.

 

This workshop is organized and will be presented by Gabor Marth (Boston College), Goncalo Abecasis (University of Michigan), Ewa Deelman (University of Southern California), Li Ding (Washington University), Bob Handsaker (Harvard Medical School), Ali Torkamani (Scripps Institute), and Geraldine Van der Auwera (Broad Institute). Few laboratories have the computational expertise and infrastructure necessary to accurately process and analyze the tremendous amount of data produced by high-throughput sequencing. The NHGRI iSeqTools consortium (iseqtools.org) provides open “researcher friendly” solutions for variant calling, structural variation, RNA-seq, annotation, and interpretation in professional-grade genomic analysis workflows. Our workshop will consist of three parts. First, we will provide an overview of the “universe” of tools available through the iSeqTools network, highlighting how these tools can be used to gain new biological insights. Second, we will showcase two specific areas of great interest to the genomic community. (1) INDEL variant detection. While SNP detection is perceived as solved, INDEL detection is much less mature. iSeqTools has a number of tools and pipelines for this purpose, and we will showcase effective workflows for both germline and somatic INDEL detection, including both mapping and de novo assembly based methods. (2) Cloud-based sequence analysis. Use of the cloud is increasingly important, but many users find it very difficult to use available systems on commercial clouds. We will showcase a number of iSeqTools examples to inform genomic scientists, and we seek to “de-mistify” genome analysis on the cloud. A panel discussion for Q&A will conclude.

 

Seating is limited and may be reserved only by registering in advance, so please register early. Lunch is included in the $25 USD registration fee. Tickets will be issued along with your meeting badge. Tickets are non-refundable.

 

Room 24, Upper Level
12:30 pm – 2:00 pm

Advanced Features of the UCSC Genome Browser - $25 USD

Separate advance registration is required. Please check the appropriate box on the meeting registration form.

 

Workshop requirements: You must bring your laptop. Your laptop should have full battery power and must have a wireless card.

 

This workshop is organized by Robert Kuhn and will be presented jointly with Pauline Fujita, both of University of California Santa Cruz.

 

Participants should be familiar with the UCSC Genome Browser. This workshop will demonstrate advanced functions of the Browser, including the important Custom Tracks feature for uploading user data for viewing alongside UCSC-resident data, the Session tool for sharing with colleagues, and the Table Browser for data-mining. Also presented is the Variant Annotation Integrator (VAI) that performs interpretation of genomic variants from NGS data. The VAI allows interpretation of variants using analysis datasets of the user's choice, including ENCODE project data. Links to training materials are available at http://genome.ucsc.edu/training.html. A new downloadable version of the Genome Browser that runs on the user's computer will be demonstrated. This version brings a fully-functional copy of the Browser to the desktop, allowing display of user data that may be proprietary or sensitive and not suitable for transmission to the web-based version.

 

Seating is limited and may be reserved only by registering in advance, so please register early. Lunch is included in the $25 USD registration fee. Tickets will be issued along with your meeting badge. Tickets are non-refundable.

 

Room 32A/B, Upper Level
6:30 pm - 8:00 pm

ASHG Trainee Networking Session - $25 USD

Network with professionals in a wide range of genetics-related careers.

Separate advance registration is required. Open to trainee registrants only. Please check the appropriate box on the meeting registration form.

 

 

Trainees will mingle with potential employers and experienced members of the Society representing a wide range of careers, both in traditional research and medicine-oriented fields, and in non-traditional fields such as intellectual property law, science policy, and science education. This event is organized as a standing reception to encourage mingling and networking with as many people as possible.

 

Professionals attending this session will be from a variety of careers and companies, including:

Academic Research Faculty

Industry & Biotechnology (Illumina, Fluidigm, Roche, Qiagen, BioFire Defense)

Clinical Medical Genetics

Genetic Counseling

Genetics Education

Clinical Research Translation

Science Policy

Science Writing & Editing

Scientific Society

Undergraduate Teaching Faculty

ASHG Policy Fellowships

Consulting

Laboratory & Diagnostics

 

Seating is limited and may be reserved only by registering in advance, so please register early. Appetizers and drink tickets are included in the $25 USD registration fee. Tickets will be issued along with your meeting badge. Tickets are non-refundable.

 

NOTE: Non-trainees who are invited to participate should NOT order tickets for themselves when completing the online registration form.

Ballroom 20D Terrace,
Upper Level
 

Tuesday, October 21

10:00 am – 4:00 pm

ASHG/FASEB Career Resources - FREE

Coaches will be available one-on-one to provide attendees free career guidance, interview tips, and to critique resumes or CVs. Stop by to make your appointment!

 

Exhibit Hall, Booth 1533
10:00 am - 4:00 pm

ASHG Trainee Lounge - FREE

Mingle with other trainees! New this year!

 

This trainee-dedicated area is specifically designed for our early career attendees and provides an additional opportunity to network, discuss poster and session highlights, and relax away from the excitement of the meeting. Trainee members of ASHG committees will be available at designated times to answer any questions and explain the opportunities ASHG has to offer trainees at the meeting and beyond.  

 

Exhibit Hall, Booth 1805

12:30 pm – 2:00 pm

ASHG Trainee Professional Development Program - FREE

Two 45-minute sessions on topics relevant to the professional development of trainees will be offered.

 

This session is organized by the ASHG Training and Development Committee, which is composed of trainees and focuses on trainee events. The format will consist of two independent, 45-minute workshops presented by FASEB Career Services held in the Professional Development Theater on the Exhibition Hall floor.    Trainees may choose to attend one or both workshops within this session.

 

12:30 pm- Negotiating Strategies for Scientists, presented by Debra Behrens. This workshop introduces effective methods of negotiating with potential employers. Topics: The basic elements of successful negotiation, contexts of gender and culture, avoiding common pitfalls, leveraging your strengths, handling multiple offers, and closing the deal.

 

1:15 pm- How to Choose Your Ideal Career, presented by Bill Lindstaedt. Here you will learn about a logical, step-by-step process for exploring your career options and deciding which will provide the best fit for your skills, values, and interests.

 

 Space is limited to 50 participants per workshop, on a first come, first served basis

 

Exhibit Hall, Professional Development Theater
12:30 pm – 2:00 pm

Behind the Scenes: ASHG Publications Workshop - $25 USD

Get the inside perspective on how the peer review process works and what journal editors are looking for.

Separate advance registration is required. Please check the appropriate box on the meeting registration form.

 

 

This revamped workshop begins with a short overview of the process of publishing a manuscript, which will be followed by 10-15 minutes of general questions from the audience. Then, a dozen or more journal editors will join registrants at their lunch tables to answer questions in smaller, more relaxed settings. At roughly 15-minute intervals, the editors will rotate to other tables, giving each registrant the chance to interact with three or four editors. The session is geared towards trainees and junior faculty who are relatively new to publishing.


Meet editors from the following journals:

American Journal of Human Genetics

Nature Genetics

Genome Research

PLoS Genetics

Genetic Epidemiology

Science

Nature Communications

Cold Spring Harbor Press

Human Molecular Genetics

Genome Biology

Human Mutation

Trends in Genetics

Nature Reviews Genetics

Nature

 

Seating is limited and may be reserved only by registering in advance, so please register early. Lunch is included in the $25 USD registration fee. Tickets will be issued along with your meeting badge. Tickets are non-refundable.

 

Room 25ABC, Upper Level
12:45 pm - 1:45 pm Poster Walks II - FREE

Separate advance registration is required. Open to ASHG trainee members only. Please check the appropriate box on the meeting registration form.

 

New this year, three posters from four different topic areas (listed below) will be presented in poster walks led by prominent scientists in the field. The leader of each walk will select the posters in August and during the walks will offer context, as well as highlight some of the more significant and thought-provoking aspects of the research. Poster authors will be informed of the selection in September. Poster authors are not required to be at their posters during the walks but will be invited to a poster walk orientation to discuss their work with the leader. Note that due to the very limited number of spots, registrants may only register for one poster walk across both sessions.

 

Tuesday Topics 

Ethical, Legal, Social and Policy Issues in Genetics: Wylie Burke

Metabolic Disorders: David Valle 

Molecular Basis of Mendelian Disorders: Lou Kunkel

Statistical Genetics and Genetic Epidemiology: Aravinda Chakravarti

 

Seating is limited and may be reserved only by registering in advance, so please register early. Poster walks are open to ASHG trainee members only.

 

Exhibit Hall
12:30 pm – 2:00 pm

Clinical Genomics at NCBI - $25 USD

Separate advance registration is required. Please check the appropriate box on the meeting registration form.

 

Workshop requirements: You must bring your laptop. Your laptop should have full battery power and must have a wireless card.

 

This workshop is organized and will be presented by Melissa Landrum (National Center for Biotechnology Information), Valerie Schneider (National Center for Biotechnology Information), and Mike Feolo (National Center for Biotechnology Information). The National Center for Biotechnology Information (NCBI) provides data and tools that are indispensable to the clinical genomics community. Whether you are developing novel techniques for variant discovery or you are a clinical researcher applying the latest genomic medicine in your lab, NCBI provides databases and tools that can expedite your work. In addition to supporting general variation databases such as dbSNP, dbVar and dbGaP, NCBI also maintains more clinically focused resources such as ClinVar, MedGen, and the Genetic Testing Registry (GTR). The NCBI has multiple tools to represent and analyze large-scale genomic data such as genome assemblies. The update of the human reference assembly to GRCh38, which incorporates many improvements in the representation of human chromosomes and common structural variants, introduces the complication of porting a vast amount of biological data onto a new framework. This ninety-minute workshop will provide general strategies for quickly finding variation and phenotype data at NCBI, provide strategies for transitioning to the new genome assembly, and outline how to identify regions of the assembly that have been revised dramatically, potentially modifying data interpretations. This workshop will be valuable for anyone interested in variant identification or interpretation in the context of human biology.

 

Seating is limited and may be reserved only by registering in advance, so please register early. Lunch is included in the $25 USD registration fee. Tickets will be issued along with your meeting badge. Tickets are non-refundable.

 

Room 32A/B, Upper Level
12:30 pm – 2:00 pm

Best Practices for Variant Discovery with the GATK - $25 USD

Separate advance registration is required. Please check the appropriate box on the meeting registration form.

 

 

Workshop requirements: You must bring your laptop. Your laptop should have full battery power and must have a wireless card.

 

This workshop is organized and will be presented by Benjamin Neale (Massachusetts General Hospital), Ami Levy-Moonshine (Broad Institute), Geraldine Van der Auwera (Broad Institute), and Eric Banks (Broad Institute). Prior experience with the Genome Analysis Toolkit (GATK) is not required. The GATK, developed at the Broad Institute, is currently one of the most widely used software tools for variant discovery and genotyping in whole genome and exome data. This workshop will present the core “Best Practices” developed by the GATK team, which are crucial to getting the most accurate and meaningful results out of any variant discovery analysis. We will walk attendees through the the complete Best Practices workflow (from data preparation to variant calling and filtering), explaining the role and importance of each step, and showing how to apply each step to the data. Through this workshop, attendees will be empowered to leverage the power of GATK and apply our Best Practices variant discovery workflow in their own research.

 

Seating is limited and may be reserved only by registering in advance, so please register early. Lunch is included in the $25 USD registration fee. Tickets will be issued along with your meeting badge. Tickets are non-refundable.

Room 24A/B, Upper Level
 

Wednesday, October 22

11:15 am – 11:30 am ASHG/Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research Announcement Ballroom 20B/C, Upper Level

 

*For a complete schedule of ASHG 2014 events, please click here.

*All events at San Diego Convention Center (SDCC) unless otherwise noted.

 

Contact Meeting Management

 

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