Search Results
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… D.K., Nyhan W.L., Biesecker L.G., and Venditti C.P. Exome sequencing identifies ACSF3 as the cause of Combined …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… to analyze the tumor and non-tumor samples, including exome and whole-genome sequencing, gene-expression profiling, …
Staff
Dr. Chris Gunter is a senior advisor to the NHGRI director on genomics engagement.
… spectrum disorder risk genes in rhesus macaques: A whole exome sequencing study. Autism Research . 2022. [ PubMed ] …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… to technologies such as next-generation sequencing, exome sequencing, gene panels, MRIs, sonograms etc., for …
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… • Intentional search for actionable mutations from exome/genome – Independent of indication for sequencing • … • Intentional search for actionable mutations from exome/genome – Independent of indication for sequencing • … organic acidosis, decompensation, CNS infarcts, coma • Exome identified ACSF3 mutations • ClinSeq ® participant with …
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… to include facial twitches and mild dysarthria • Exome: de novo R418W (c.1252C>T) in ADCY5 • Familial … of adult “actionable” gene-disease pairs • Classify all Exome Variant Server (EVS) SNVs called “Disease Causing” by … 36 (0.8%) 12 (0.5%) Expected Rate of Actionable Variants: Exome Variants Server (EVS) Results by Ancestry Group 626 …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… 1,600 individuals (patients and family members); whole-exome sequencing analyses performed for approximately 900 …
Staff
Dr. Sara Chandros Hull is a deputy scientific director in the Office of the Scientific Director and the director of NHGRI's Bioethics Core.
… Hull SC , Bamshad MJ. Genomics Really Gets Personal: How Exome and Whole Genome Sequencing Challenge the Ethical …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… MD, Gavrilov DK, Nyhan WL, Biesecker LG, and Venditti CP. Exome sequencing identifies ACSF3 as the cause of Combined …
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… • Newborn screening and patients with immune disorders • Exome seq • Evaluate seq for newborn screening -focus groups … replicate or augment known newborn screening results? • Exome sequencing currently cannot replicate known newborn screening results – of 182 exomes, 12.3% FN • Exome sequencing useful to augment newborn screening –can …