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Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… offers several advantages, such as external fertilization, high fecundity, optically transparent embryos, rapid embryo … and implementation of new approaches to increase the throughput and quality of core services while reducing cost. … assays. Recently, the core has developed efficient screening methods for generation of zebrafish models with …
Staff
Valentina Di Francesco is NHGRI's Chief Data Science Strategist and Director of the Office of Genomic Data Science within the NHGRI Office of the Director.
… and established initiatives focused on the use of high-throughput "omics" technologies, the development of big-data …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… patients with GD and other lysosomal disorders. Additional screening using mutant enzyme from patients with GD … O, Southall N, Choi JH, Marugan J, Austin CP, Sidransky E. High throughput screening for small molecule therapy for Gaucher …
Staff
Dr. Lisa Helbling Chadwick is a deputy director in Division of Genome Sciences at the National Human Genome Research Institute. ​
… evaluation of candidate variants, and the development of high-throughput genomic technologies related to gene expression or …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… occupied the forefront of research innovation by using high-risk screens to identify major modifiers of primary … to identify candidate therapeutic compounds via high-throughput screens, its Therapeutics for Rare and Neglected … in establishment of a natural history study to identify screening criteria and biomarkers for use in gauging …
Staff
Barbara Thomas is a scientific review officer for the Center for Inherited Disease Research (CIDR).
… (CIDR) , a trans-NIH program that provides access to high throughput genotyping and next-generation sequencing services … and decision making through the CIDR Board of Governors, high-level oversight of project management, and data sharing …
Staff
Dr. Stephanie Morris is a program director in NHGRI's Division of Genome Sciences.
… in 2019. She manages a portfolio of grants focused on high-throughput genomic technology development and functional …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… with tenure in 2007. Dr. Segre's laboratory utilizes high-throughput sequencing and develops algorithms to study the …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… cancer. Her laboratory has since identified novel, high-frequency somatic mutations in PI3-kinase in endometrial … In early studies, Dr. Bell's laboratory used high-throughput Sanger sequencing, coupled with a candidate …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… with the goal of advancing noninvasive prenatal DNA screening and diagnosis and investigating the fetal … prenatal testing (NIPT) - has revolutionized prenatal screening and diagnosis for fetal chromosome abnormalities. … lower false positive rates (FPRs). Due to the improved screening test performance for the common autosomal …