Sentences with phrase «clinical sequencing projects»

Scientists and clinicians hope that the lessons learned in these initial large - scale clinical sequencing projects will inform genomic medicine as it reaches more patients and moves to other specialties, such as neurology and cardiology, and even to routine health care.

The first clinical sequencing projects are also grappling with what they should or shouldn't tell patients.

By the end of this year, hundreds of children with unexplained forms of intellectual disability and developmental delay will have had their genomes decoded as part of the first large - scale, national clinical sequencing projects.

Not exact matches

NIH - NIAID has funded this genome project to sequence nine phenotypically characterized strains of B. pseudomallei, as well as 25 B. pseudomalleibacteriophage genomes isolated from 48 different B. pseudomallei strains from various geographic and clinical sources.

She's been instrumental in developing human genetics studies at the Oxford University Clinical Research Unit (OUCRU) and in Viet Nam through her involvement in 1000 Genome project, particularly the genome sequencing of the Vietnamese Kinh ethnic group.

He is the co-PI of the Geisinger Electronic Medical Records in Genomics (eMERGE) project and is the medical director of the whole genome sequencing clinical research project.

The LMM and the Broad CRSP lab offer genomic sequencing services for both clinical diagnostics and to support several genomic medicine research projects including the MedSeq and BabySeq projects and the eMERGE program.

Rehm is also a co-investigator of the BabySeq Project exploring the clinical use of genomic sequencing as an adjunct to newborn screening, principal investigator in the eMERGE consortium supporting genomic discovery and genomic medicine implementation, and a principal investigator on a project to develop i2b2 into a Health Innovation Platform for clinical decision sProject exploring the clinical use of genomic sequencing as an adjunct to newborn screening, principal investigator in the eMERGE consortium supporting genomic discovery and genomic medicine implementation, and a principal investigator on a project to develop i2b2 into a Health Innovation Platform for clinical decision sproject to develop i2b2 into a Health Innovation Platform for clinical decision support.

This project produced data demonstrating that 185 CHIKV sequences associated with the 2014 Caribbean outbreak segregate into 2 well - supported clades, that multiple phylogenetic subclades are associated with clinical phenotypes, and that multiple international transmission events were observed.

The report recommends that NHSE should perform a detailed evaluation of the project «to inform an assessment of the anticipated clinical - and cost - effectiveness of routine whole genome sequencing in the NHS», but also notes that research and evidence gathering will need to be ongoing processes.

The BabySeq Project: Genomic Sequencing for Childhood Risk and Newborn Illness (U19 HD077671) is a first - of - its - kind randomized clinical trial designed to examine how best to use genomics in clinical pediatric medicine by creating and safely testing methods for integrating sequencing into the care ofSequencing for Childhood Risk and Newborn Illness (U19 HD077671) is a first - of - its - kind randomized clinical trial designed to examine how best to use genomics in clinical pediatric medicine by creating and safely testing methods for integrating sequencing into the care ofsequencing into the care of newborns.

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.

Critical data gathered from the NSIGHT projects will help to address technical, medical, behavioral and economic questions surrounding newborn sequencing — and ultimately, will aid in the development of best clinical practices and provide guidance on the implementation of sequencing in newborns.

Capitalizing on our experiences with high - profile clinical trials such as the MedSeq Project and BabySeq Project and our strong relationship with the Laboratory for Molecular Medicine, our group is using a combination of modeling and clinical studies to examine the costs and consequences of integrating genome and exome sequencing into a variety of clinical settings.

The MedSeq Project seeks to develop a process to integrate genome sequencing into clinical medicine and explore the impact of doing so.

In both projects the CNAG - CRG has an essential role, carrying out clinical grade sequence analysis and piloting the development of a clinical - genomics platform for cancer and rare disease diagnostics for the Catalan Health Service, based on the RD - Connect platform developed at CNAG - CRG in the framework of an EU project.

Abstract: Short - term costs of integrating genome sequencing into clinical care: Preliminary results from the MedSeq Project.

In both projects the CNAG - CRG has an essential role, carrying out clinical grade sequence analysis and piloting the development of a clinical - genomics platform for cancer and rare disease diagnostics.

Professional Summary 2017 Pfizer Inc Medivation HPC Migration Position: AWS Solution Architect Project Abstract: Pfizer Medivation has a HPC infrastructure for NGS (Next Generation Sequencing) used for important research & clinical programs.