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Staff

Chris Wellington is a program director for Computational Genomics and Data Science in the NHGRI Office of Genomic Data Science.

… is a program director for Computational Genomics and Data Science in the NHGRI Office of Genomic Data Science. His primary focus is in the Genome …

Genomics and Medicine

Genomic Medicine Year in Review

Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.

… Starting in 2019, the American Journal of Human Genetics (AJHG) has … an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in …

News Release

NHGRI selects Valentina Di Francesco as chief data science strategist

The National Human Genome Research Institute (NHGRI) has selected Valentina Di Francesco as the Institute’s first chief data science strategist and director of its new Office of Genomic Data Science. In this role, she will provide leadership, strategic guidance and coordination for NHGRI activities, programs and policies in genomic data science. NHGRI is part of the National Institutes of Health (NIH).

… Sarah A. Bates, M.S. … She will lead new NHGRI Office of Genomic Data Science. … The National Human Genome Research … science is a field of study that enables researchers to use powerful computational and statistical methods to decode …

Leadership Initiatives

Genomics and Health Disparities Interest Group

The Genomics and Health Disparities Interest Group provides a forum to connect individuals from different scientific disciplines across the National Institutes of Health (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics and health disparities research, as well as provide opportunities for professional development, networking and community engagement.

… scientific disciplines across the National Institutes of Health (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics … networking and community engagement. … As the pace of genomic research accelerates , understanding the role of …

Clinical Research

Gaucher Disease Clinical Studies at NIH

In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.

… which breaks down a normal metabolic byproduct stored in the lysosomes (recycling centers) of macrophages (clean-up cells of the immune system). In … P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher …

News Release

Who should decide? The Complex Ethics of Pediatric Genome Sequencing

The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.

… technologies, genome sequencing carries the possibility of incidental or "secondary" findings that can reveal … previously unsuspected disease states. Pediatricians, in particular, face complicated ethical questions about what … group, this may not be as hard as it sounds. Although genomic technologies may be new to many pediatricians, and …

Research Funding

Genome Sequencing Program Coordinating Center

Coordinates activities across the Genome Sequencing Program components

… Sequencing Program Coordinating Center (GSPCC) was funded in 2016 to coordinate activities across the Genome Sequencing … including: Tracking genome sequencing and analysis costs; data production and deposition; project completion Being a … Investigator: Richard Wilson, Ph.D. Broad Institute of MIT and Harvard , Cambridge, Massachusetts Principal …

Event

NHGRI at 2024 ACMG Annual Clinical Genetics Meeting

On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.

… 14, 2024, 4:15 – 5:45 p.m MTCC-718 Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us … Genetics Referrals P224 Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples … An observational study P712 A Novel Framework for Use of the PP1/BS4 Co-segregation and PP4 Phenotype …

Talking Glossary

Hibridación fluorescente in situ (FISH)

La hibridación fluorescente in situ (FISH) es una técnica de laboratorio que se usa para detectar y localizar una secuencia de ADN específica en un cromosoma.

… Hibridación fluorescente in situ (FISH) … La hibridación fluorescente in situ (FISH) … sequence on a chromosome. In this technique, the full set of chromosomes from an individual is affixed to a glass slide … matching sequence within the set of chromosomes. With the use of a special microscope, the chromosome and …

News Release

NHGRI selects Adam Phillippy as first director of new Center for Genomics and Data Science Research

NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.

… to provide scientific leadership and shape direction of computational genomics in institute’s Intramural Research … the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural … applied genomics, comparative genomics, bioinformatics and genomic medicine. The newly established Center and its …