Page 131 - ASHG 2012 Annual Meeting Program Guide

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INVITED AND PLATFORM SESSIONS
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Saturday, November 10
9:40
AM
–11:40
AM
Concurrent Invited Session III (73-80)
SESSION 74 – Genomic Approaches to Mendelian
Disorders
Hall D, Lower Level North, Moscone Center
Moderators
:
Jay Shendure, Univ. of Washington; David
Valle, Johns Hopkins Univ. Sch. of Med.
Although the gene(s) underlying approximately 3,000
Mendelian disorders are known, there are thousands
of well-defined or suspected Mendelian disorders for
which the genetic basis remains unknown. The past
three years have been witness to an explosion of
interest in applying new technologies such as exome
and genome sequencing to identify the genetic basis
of Mendelian disorders that have proven intractable to
conventional strategies. In this session, we will
describe the progress as well as current challenges
facing efforts to scale and accelerate the application of
next-generation technologies to Mendelian disorders,
e.g. the U.S.-based Mendelian Genome Centers as
well as related international efforts. Topics that will be
explored include primary research results from leading
groups in this field; advances and ongoing challenges
in phenotype curation, sequencing technology, and
data analysis; and the broader implications of these
efforts for biology and medicine.
9:40
AM
Genomic approaches to Mendelian
disorders.
D. Valle. Johns Hopkins Univ. Sch. of Med.
9:55
AM
FORGE Canada: A nation-wide effort to
understand the genomics of childhood disorders.
K. Boycott. Children’s Hosp. of Eastern Ontario,
Canada.
10:10
AM
Current challenges in exome or genome-
based analysis of Mendelian disorders.
J. Shendure.
Univ. of Washington.
10:40
AM
Lessons from 500 diagnostic exomes.
H.
G. Brunner. Radboud Univ. Nijmegen Med. Ctr.,
Netherlands.
11:10
AM
Genes, genomes and the future of
medicine.
R. Lifton. Yale Univ.
Saturday, November 10
9:40
AM
–11:40
AM
Concurrent Invited Session III (73-80)
SESSION 75 – Emerging Applications of Identity by
Descent Segment Detection
Gateway Ballroom 104, Lower Level South, Moscone
Center
Moderators
:
Sharon R. Browning, Univ. of Washington;
Brian L. Browning, Univ. of Washington
Identity by descent (IBD) is fundamental to genetics
and has diverse applications. Recently developed
statistical methods and genome-wide SNP data have
made it possible to detect haplotypes shared
identically by descent between individuals with
common ancestry up to 25-50 generations ago. With
sequence data, shared haplotypes from even more
distant ancestry can be detected. Patterns of IBD
segment sharing within and between populations
reveal important population demographic features
including recent effective population size and migration
patterns. IBD segment sharing is directly relevant to
disease gene mapping and estimation of heritability.
Individuals who share a genetic basis for a trait are
more likely to have IBD sharing compared to randomly
chosen individuals, and this forms the basis for IBD
mapping and heritability estimation. Analysis of data
from extended pedigrees was extremely difficult with
standard linkage approaches, but is now possible
using approaches based on detected IBD segments.
Detected IBD can be present across pedigrees, which
enhances power to detect association with the trait.
Further, in population samples there is potential to
utilize detected IBD segments to improve power to
detect association when multiple variants within a
gene influence the trait. IBD segments can also be
used to greatly improve haplotype phase estimates,
which is critical to understanding the functional
consequence of genetic variation. IBD-based long-
range phasing has previously been shown to be
effective in isolated populations such as Iceland, but
recent advances have extended its application to large
outbred populations. In this session, we explore these
exciting new developments.
9:40
AM
Sharing by descent, phasing, rare
variants and population structure.
A. Kong. deCODE
Genet., Reykjavik, Iceland.
10:10
AM
Length distributions of identity by
descent reveal fine-scale demographic history.
I. Pe’er. Columbia Univ.
10:40
AM
Identity by descent within and between
pedigrees.
E. A. Thompson. Univ. of Washington.
11:00
AM
Using high resolution identity by descent:
From detecting selection to explaining trait
variability.
M. Abney. Univ. of Chicago.
11:20
AM
Extending the limits of IBD segment
detection with sequence data and new statistical
methods.
B. L. Browning. Univ. of Washington.