Search Results
Staff
Dr. Jean Gao is a Program Director in NHGRI's Office of Genomic Data Science.
… in 2024 as a Program Director in the Office of Genomic Data Science. She manages a portfolio of grants focused on developing data science and computational methods to address complex … She co-leads the CGDS (Computational Genomics and Data Science) R01 and R21 program, and the Common Fund …
Staff
Dr. Sandhya Xirasagar is a program director in NHGRI’s Office of Genomic Data Science.
… is a program director in NHGRI’s Office of Genomic Data Science. Prior to joining NHGRI in 2022, Sandhya was at … promoting, supporting, and coordinating genomic data science activities across NHGRI. She oversees an … grant portfolio focused on model organism databases, data science, and training to foster genomics and data …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… clinicians in these circumstances to obtain as much useful data as possible. Will I be able to visit a local doctor to … to travel to the NIH clinical center annually. The data for the study is most consistent and thus comparable … local clinicians in these circumstances to obtain clinical data and samples. Is my doctor going to be my primary doctor …
Research Funding
A scalable and interoperable resource that leverages cloud-based infrastructure for genomic data access, sharing and computing.​
… use of human genomics and other controlled-access data in compliance with the informed consent of a study’s … A list of available datasets can be found in the DUOS Data Library. … The NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL) is a cloud-based genomic data sharing and analysis platform.  AnVIL facilitates …
Research Funding
The PhenX Toolkit is a freely available web catalog of standard protocols for collecting data in biomedical and epidemiologic research
… language versions); and bioinformatics support (e.g., data dictionaries, REDCap compatible modules) to facilitate implementation of the measures and data analysis downstream. Studies that use PhenX (consensus … The use of PhenX measures facilitates collaboration and data sharing, thus increasing the impact of individual …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.
… a complete sequence from relatively short-range data generated by sequencing instruments, like a giant jigsaw … two images on top of each other, and leads to both data loss and errors in analysis. To mitigate these issues, … Dr. Koren pioneered the use of newer noisy long-read data (such as generated by Pacific Biosciences (PacBio) and …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… the genomes of healthy participants, then analyzed the data to find "putative," or presumed, mutations that would … of looking at the person after looking at the genomic data "iterative phenotyping." Researchers sifted through more … the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… but much more needs to be done before the use of sequence data becomes routine. Evidence regarding the most promising … Incorporation of comprehensive genomic sequence data into clinical care will require changes to institutional … psychosocial implications of returning genomic variation data, with all of the caveats regarding statistical …
Event
Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and their influence on minority health and health disparities.
… a workshop to discuss the use of race and ethnicity data in genomics, biomedical, and clinical research, and … Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and … Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
… and Global Health (CRGGH), have used whole genome sequence data to investigate the origin of the mutation that causes … Researchers used whole genome sequence data to investigate the origin of the mutation that causes … Researchers used whole genome sequence data to investigate the origin of the mutation that causes …