Search Results
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… The CLINSEQ® Study seeks to learn about the role that your genes … To create new ways to analyze and store genetic data. … CLINSEQ® study recruitment will focus on the metropolitan …  Do not have a parent, sibling or child who is already in CLINSEQ®  We want to diversify our study group and are very …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… discovery of many others. In addition, he developed the ClinSeq®program, which has consented more than 1,000 subjects … clinical genomics research. This project, aptly named ClinSeq ®, uses massively parallel sequencing and other … interrogation methods as a tool for clinical research. The ClinSeq® study enrolls patients with a range of phenotypes, …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… Dr. Biesecker's group used patient DNA samples from ClinSeq®, an NHGRI DNA sequencing project aimed at examining … Dr. Biesecker, who is the principal investigator for ClinSeq®, took advantage of the fact that many of the … by both NGS and Sanger sequencing." The researchers used ClinSeq® samples to examine NGS data from 19 genes commonly …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… syndrome and Proteus syndrome. He initiated ClinSeq® , a large-scale medical sequencing project aimed at … Genomics and Metabolic Genetics Branch, Proteus syndrome, ClinSeq … ASHG members selected Leslie G. Biesecker, M.D., a …
File
… ClinSeq ® Update Secondary Findings & Predictive Medicine Les … CNS infarcts, coma • Exome identified ACSF3 mutations • ClinSeq ® participant with homozygous variant – Post-hoc … and complementary to hypothesis -testing research … NHGRI ClinSeq Project.pdf …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… research groups to date are the FUSION study and the ClinSeq Project .  “The FUSION Study: Mapping Genes for … aging, cancer, data privacy, and others.  The ClinSeq Project is a genomic medicine study to investigate … whole-genome sequencing in the practice of medicine. The ClinSeq dataset ( phs000971 ) features a robust list of …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… research programs to the database, including NHGRI's CLINSEQ program, healthy bone marrow donors from the National … individuals with African-American ethnic backgrounds in CLINSEQ . "Ten thousand genomes and exomes is our initial …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… Genetics Section of the MGMGB. The research is part of ClinSeq, a large-scale, NIH research study that explores the … they are sick and take care of them?" To learn more about ClinSeq, see www.genome.gov/ClinSeq/ . Other co-authors include: Katie Lewis, Sc.M., …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… into Ciliopathies Coronary Artery Calcification ClinSeq: A Large-Scale Medical Sequencing Clinical Research … Studies of Lysosomal Storage Disorders Medical Sequencing ClinSeq: A Large-Scale Medical Sequencing Clinical Research …
The Genomics Landscape
In 2022, The Genomics Landscape spotlighted genomic data sharing each month in a series of entries. This page contains a collection of each of those entries.
… research groups to date are the FUSION study and the ClinSeq Project .  “The FUSION Study: Mapping Genes for … aging, cancer, data privacy, and others.  The ClinSeq Project is a genomic medicine study to investigate … whole-genome sequencing in the practice of medicine. The ClinSeq dataset ( phs000971 ) features a robust list of …