Search Results

1 - 10 of 28
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 …
File
ClinSeq Newsletter - Winter 2019 …
File
… sequencing into clinical practice: lessons from the ClinSeq project. Genet Med. 2012 Apr;14(4):393 -8. 9. Wolf … 7. Biesecker. Genotype -phenotype correlations in the ClinSeq project. 8. Berg. Technical challenges in the … Will Parsons Brigham & Women’s Hospital Robert Green NHGRI ClinSeq Study Leslie Biesecker Children’s Hospital of …
File
… in genomic studies, as well as the NHGRI Intramural ClinSeq project. Studying varied clinical contexts (e.g., …
File
… to the return of genomic results and the NHGRI Intramural ClinSeq project. CSER has recruited 5200 participants and …