Sentences with phrase «exome sequencing technology»

Gene discovery was greatly facilitated by a new exome sequencing technology, which analyzes all protein - coding regions of the genome at once.

Not exact matches

Using a novel combination of technologies, including trio exome sequencing of patient / parental DNA and genetic studies in the tiny larvae of zebrafish, the EuroEPINOMICS RES consortium found that mutations in the gene CHD2 are responsible for a subset of epilepsy patients with symptoms similar to Dravet syndrome — a severe form of childhood epilepsy that is in many patients resistant to currently available anti-epileptic drugs.

Using technologies like whole genome or whole exome (the protein - coding portion of the genome) sequencing requires specialized equipment and advanced data analysis and is still relatively expensive.

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.

Considerations of privacy and autonomy are being challenged on a massive scale by WGS and whole - exome sequencing (WES), technologies that are expected to contribute to our understanding of host genomics in the context of infectious disease.

A relatively new technology called exome sequencing has identified a few families with novel mutations in their HD genes.

These technologies include next generation exome and whole - genome sequencing, ChiP - sequencing, tissue transcriptome and epitope profiling, and miRNome, proteome and metabolome screening in different body fluids.

Follow - up of these studies, including work on long and short non-coding RNA and whole - exome sequencing, are performed using next - generation sequencing technology.

PHG Foundation has previously carried out work examining the implications of whole exome and genome sequencing on clinical services which identified data sharing as a key priority for these technologies to be deployed effectively for clinical benefit.

With this technology, we sequence DNA, RNA, micro-RNAs and perform ChIP - Seq and whole exome sequencing.

As part of their technology development goals, the scientists will also work to further improve sequence quality — decoding exomes and genomes as accurately and as cheaply as possible.

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.

In this study we aim to identify new genetic causes of PCG and JOAG using the newest genetic technologies (exome sequencing) in families, and to evaluate the role of such new genes in POAG patients.

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 lab sequences whole genomes, whole exomes and targeted regions of the genome with ultrahigh - throughput DNA sequencing technologies to identify DNA sequence variants relevant to clinical and basic biological problems.

Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype - phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets.

Researchers studying Mendelian and other genetic disorders in mice have new techniques and technologies to create new mouse models; paired with whole - exome sequencing, they have increased the rate of mutation discovery and validation tenfold.