The Division of Intramural Research conducts a broad program of laboratory and clinical research.
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Feature
CIDR quenches scientists' thirst for high quality genotyping and sequencing services
The Center for Inherited Disease Research (CIDR) provides billions of high-quality genotypes and DNA sequences by the gigabase to help investigators identify genes that contribute to human health and disease. CIDR recently celebrated its 15-year anniversary with a $101 million, five-year renewal contract. Learn more about this NHGRI-managed program. (
Read more)
See Also: DIR News Features
Current Topics in Genome Analysis 2012
Current Topics in Genome Analysis lecture series consists of lectures by local and outside speakers covering the major areas of genomics.
Highlights
NHGRI researchers weigh in with secondary variant data
NHGRI researchers found they can detect gene variants of high clinical importance when exploring beyond the initial diagnostic or research scope of a genome or exome sequencing study. They screened 572 people already enrolled in a heart disease study, called
ClinSeq, to find disease-causing variants that point to a clinically important cancer syndrome concern. Focusing on 37 genes, researchers identified more than 450 variants, including 334 considered clinically important. Seven people in the group carried gene variants in genes that appear in families with high rates of breast cancer. The study is published in the June 14, 2012, early online issue of the
American Journal of Human Genetics.
Read the study:
Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes [cell.com]
Recent Studies and Papers
Last Updated: September 3, 2012
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