Chromosomes

Building Blocks of the Genetic Code

Building Blocks of the Genetic Code

DNA: The Body’s Instruction Manual Humans and all other living things have DNA, which contains hereditary information. The information in your DNA gives your cells instructions for producing proteins. Proteins drive important body functions, like digesting food, building cells, and moving your muscles. Your DNA is the most unique and identifying factor about you—it helps... Read More

Trainee Paper Spotlight: Joseph Alaimo

Trainee Author: Joseph Alaimo, PhD Postdoctoral Fellow Baylor College of Medicine (Photo courtesy Dr. Alaimo) Joseph T. Alaimo et al. Copy number loss upstream of RAI1uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis. Molecular Cytogenetics, 8:75, (2015). This paper uses a case study to argue for functional identification of chromosomal structural abnormalities, and uses ENCODE... Read More

Hard-to-Detect Chromosomal Anomalies Explain Neurodevelopmental Birth Defects

Hard-to-Detect Chromosomal Anomalies Explain Neurodevelopmental Birth Defects

Media Contact: Nalini Padmanabhan ASHG Communications Manager 301.634.7346 press@ashg.org For Immediate Release Saturday, October 10, 2015 9:35 am U.S. Eastern Time (UTC-05:00) Findings Reported at ASHG 2015 Annual Meeting BETHESDA, MD – Balanced chromosomal abnormalities (BCAs), a category of structural changes to the human genome, may account for a large portion of birth defects related... Read More

Hard-to-Detect Chromosomal Anomalies Explain Neurodevelopmental Birth Defects

Media Contact: Nalini Padmanabhan ASHG Communications Manager 301.634.7346 press@ashg.org For Immediate Release Saturday, October 10, 2015 9:35 am U.S. Eastern Time (UTC-05:00) Findings Reported at ASHG 2015 Annual Meeting BETHESDA, MD – Balanced chromosomal abnormalities (BCAs), a category of structural changes to the human genome, may account for a large portion of birth defects related... Read More

Common Gene Variant Linked to Chromosome Errors and Early Pregnancy Loss

Media Contact: Nalini Padmanabhan ASHG Communications Manager 301.634.7346 press@ashg.org For Immediate Release Thursday, October 8, 2015 5:15 pm U.S. Eastern Time (UTC-05:00) Findings Reported at ASHG 2015 Annual Meeting BETHESDA, MD – Researchers have identified a common genetic variant strongly associated with chromosome gains and losses during the early stages of human embryonic development. These... Read More

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