Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Divisions
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… from the Affymetrix Genome-Wide Human SNP 6.0 array, exome array genotypes, targeted dense SNP genotypes on selected genomic regions, and whole exome sequence data. The proteomics data were obtained using … genotypes from the Affymetrix Axiom PanAFR array, exome array genotypes from the Affymetrix Exome 319 array, …
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 …
FAQ
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021, RFA-HG-24-022, and RFA-HG-24-023. These FAQs contain questions answered during that webinar.
…  Will the Network consider other approaches besides Whole Exome Sequencing (WES)? Yes, we have included some … more about NHGRI expectations .  The NOFO calls for whole exome sequencing (WES) to be utilized by the SeqC. Given that … to decline analysis and storage of the remainder of their exome data that is not relevant to the conditions of …
Staff
Dr. Neil 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 …
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 …
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 …