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News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… a genetic condition," Dr. Kastner said. "We used a whole-exome screen to locate genetic variants in each of the patients." Whole-exome sequencing determines the order of DNA bases for the 1 … passed from both parents to the affected child. The whole-exome sequence of a third patient identified another harmful …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… genomic alterations that drive sporadic tumors using whole-exome and whole-genome sequencing approaches, expression … statistical tools for evaluating whole genome, whole exome, and comparative genome data. These tools are applied … and case-control studies. In addition we perform whole exome and genome sequencing of both germline DNA and tumors. …
File
… Exome / Genome Sequencing Obesity Study Consent Form …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… Platform Session A 9. Danielle M. Karyadi: Whole exome sequencing in 75 high-risk families identifies eight … to 6q. (Cancer Genetics) 2701W. Alexander Pemov: Whole exome sequencing and copy-number variation analysis of 20 … Bicuspid Aortic Valve: Chromosomal Microarray and Whole Exome Sequencing. (Cardiovascular Genetics) 716W. Guanjie …
Staff
Dr. Clesson Turner is the director of the Reverse Phenotyping Core and a staff clinician in the Center for Precision Health Research of the National Human Genome Research Institute.
… mutation data from participants that have undergone exome or genome sequencing. These participants are consented … SM, Wei JS, Guha U, Turner CE , Khan J, Thomas A. Whole-exome sequencing reveals germline-mutated small cell lung …
Secondary Genomics Findings Service
How to send data, confirming preliminary results, and returning results
… from a second DNA sample (see screenshot below as well): “Exome-Confirmation, Saliva, NHGRI” “Exome-Confirmation, Blood, NHGRI” A printout of this …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… for extracting mitochondrial sequence data from nuclear exome sequencing. The clinical focus of the ClinSeq® … Geschwind MD, Nyhan WL, Biesecker LG, Venditti CP. Whole exome sequencing identifies mutations in ACSF3 as the cause … JC, Biesecker LG. VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer. …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… 16,000 research participants who have undergone genome or exome sequencing. Exome and genome sequencing data from participants who …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… disease genes each year using a technique called whole-exome sequencing. This method sequences all the regions of … genome responsible for encoding proteins. However, whole-exome sequencing has not been successful in identifying the …
Staff
Dr. Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… Brown CW, Mardon G, Matshaba M, Hanchard NA. Unmapped exome reads implicate a role for Anelloviridae in childhood … African Genomics Network of the H3Africa Consortium. Whole exome sequencing reveals uncaptured variation and distinct … JR Lupski, RA Gibbs, E Boerwinkle, JW Belmont. Whole Exome Sequencing in 342 Left-Sided Lesion Cases Reveals …