Sentences with phrase «research exome»

It came up in the course of discussion that research exome sequencing had been performed on both girls and their (healthy) parents some time ago.

My institute and St. Louis Children's Hospital also launched a new initiative this year, called the Pediatric Genomics Board (PGB), to perform research exome sequencing for infants with severe (but undiagnosed) genetic disorders.

Not exact matches

But rather than buying up a genetic research outfit, it decided to build its own in the form of the Regeneron Genetics Center (RGC), an ambitious four - year old effort to sequence as many exomes (the protein - encoding part of the genome) as possible, pair them with medical records, and accelerate drug development.

Over the course of a year, a committee led by Green and Leslie Biesecker, chief of the Genetic Disease Research Branch at the National Human Genome Research Institute in Bethesda, Maryland, has been weighing how to handle «incidental findings» that turn up when a genome or exome is sequenced for some other medical reason.

As part of these ongoing research activities, the DNA of Dravet patients without SCN1A mutations was analyzed by trio exome sequencing, which searches across the active parts of the genome for de novo mutations that have arisen in these patients (de novo mutations are DNA copying errors that occur in the parents» gametes or in the fertilized egg or embryo, resulting in the afflicted family member being the first person in their family to have this genetic condition).

The research is based on whole exome sequencing (WES), which is the part of the genome translated into proteins.

Exomes and the Clinical Research Conundrum: New Approaches to Enhancing the Value of Genomic Data

The advent of accessible and relatively inexpensive high - throughput sequencing technology has resulted in extensive sequencing of whole human genomes or exomes in a research setting and seems likely to lead to an explosion of genomic sequencing in a clinical context.

The ESP was a pioneering effort in many ways, and its database of coding variation from thousands of exomes has been a critical resource for many research studies.

Ongoing T2D research activities at CRGGH include 1) whole - exome sequencing of African families with at least four affected members (data generation is complete and analysis is ongoing), 2) GWAS of 1,200 cases and 1,200 controls from West Africa using the new and more efficient African - centric Affymetrix Axiom genome - wide array with more than 2 million markers, and 3) whole genome expression analysis on skeletal muscle obtained from biopsy from 45 subjects (expression QTL (eQTL) studies on the dataset are complete).

Ongoing hypertension research activities in the branch include whole - exome sequencing of AA families with multiple affected members and inclusion in the Minority Health Genomics and Translational Research Biorespository Database (MH - GRID) research activities in the branch include whole - exome sequencing of AA families with multiple affected members and inclusion in the Minority Health Genomics and Translational Research Biorespository Database (MH - GRID) Research Biorespository Database (MH - GRID) Network.

In 2014 the CNAG - CRG together with CIBERER launched a call to the Spanish research community offering free - of - charge Whole Exome Sequencing and bioinformatic analysis for disease gene identification in rare disorders.

Genomic Inheritances: Disclosing Individual Research Results From Whole - Exome Sequencing to Deceased Participants» Relatives The American Journal of Bioethics, 12 (10), 1 - 8 DOI: 10.1080 / 15265161.2012.699138

Dr. Shendure's research group in Seattle pioneered exome sequencing and its earliest applications to gene discovery for Mendelian disorders (e.g. Miller and Kabuki syndrome) and autism; cell - free DNA diagnostics for cancer and reproductive medicine; massively parallel reporter assays and saturation genome editing; whole organism lineage tracing; and massively parallel molecular profiling of single cells.

In both research and clinical settings, the majority of patients with rare disease lack a clear etiology after exome and genome sequencing.

In the last five years, major advances in genomic technology, especially in sequencing whole genomes and whole exomes (the portion of the genome that codes for proteins), have given rare disease research an important boost.

Under Dr. Mullikin's leadership, NISC has begun to apply genome sequencing technologies to clinical research, especially with its largest project, called ClinSeq, for which NISC has generated more than 500 whole - exome sequences to date.

The Mouse Genomes Project and Sanger Mouse Exomes Project releases sequence data, SNPs and other variant calls as a service to the research community.

194/6: 45 Improving diagnosis and furthering gene discovery through recruitment of clinical whole exome sequencing cases into research.

Over the last several years, sequencing patients» protein - coding genes — known as whole - exome sequencing — has facilitated molecular diagnosis and as served as a research tool for discovering the fundamental genetic bases for over 100 Mendelian diseases.

The distribution of mutant genes was roughly consistent with expectations based on previous exome - wide sequencing studies of BCs (Cancer Genome Atlas Research Network, 2014).