Sentences with phrase «exome sequences»

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

Saturday, Oct. 22, 11:15 - 11:30 am, Room 302, West Building Platform Presentation: Identification of recurrent copy number variants associated with developmental brain disorders from whole exome sequencing of 47,859 participants in the DiscovEHR study A.E. Hare - Harris, Geisinger Health System, et al

Srivastava S, Cohen JS, Vernon H, Baranano K, McClellan R, Jamal L, Naidu S. and Fatemi A; Clinical whole exome sequencing in child neurology practice.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

In the first cohort, researchers led by Jeeyun Lee, MD, from Sungkyunkwan University School of Medicine in Seoul, performed whole exome sequencing on samples from paired synchronous primary and metastatic tumors.

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.

performed exome sequencing on DNA from three affected and one unaffected family members.

Melanoma was another cancer type surveyed by multiple exome sequencing studies in 2011.

This is a typical diagnostic rate for clinical exome sequencing and is consistent with previous reports based on smaller cohorts.

Wednesday, Oct. 19, 10:15 - 10:30 am, Room 211, West Building Platform Presentation: Analysis of BMI using whole exome sequence from 49,178 individuals from the Geisinger Health System DiscovEHR study A.H. Li, Regeneron Genetics Center, et al

First, using next - generation toxicological approaches, such as exome sequencing of the whole genome and bioinformatics for analyzing mutation patterns, Hang hopes to further characterize the cancer risk of cells and tissues exposed to thirdhand smoke.

David FitzPatrick is also one of the leads on the large - scale, UK - wide, trio - based exome sequencing project Deciphering Developmental Disorders (DDD).

Finally, Dr. Shendure gave an overview of last year's elegant Nature paper, in which exome sequencing of four individuals, followed up by careful downstream informatics, correctly identified the causative gene.

They are also looking for genes, that contribute to cancer progression using whole genome sequencing or a method called exome sequencing which they developed with Greg Hannon to look at mutations in the regions of the genome that code for proteins.

Some 117 individuals underwent exome sequencing first, and in 59 of those (50 %), a likely causal variant was uncovered in this first pass.

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

With exome sequencing, this was commonly done on a per - gene or per - exon basis.

«By pulling together 24 regional genetics services and more than 180 clinical geneticists, we've implemented one single exome sequence diagnostic pipeline for children across the country,» says Dr Caroline Wright, lead author and program Manager for the Deciphering Developmental Disorders project.

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

Rapid, inexpensive exome sequencing quickly gave us access to the low - hanging fruit: rare Mendelian disorders with single, highly penetrant coding mutations.

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.

She also counseled patients who had come to the Undiagnosed Diseases Network after years of trying to put a name on a mysterious sickness, explaining whether new technologies like exome sequencing might help and discussing patients» hopes and expectations.

«Whole - exome sequencing predicts which bladder cancers, cell lines respond to cisplatin.»

In addition, according to GBG's Chief Scientific Officer David Mittelman, GBG will continue to offer North American clients other genetic information such as personal exome sequencing results that contain data on any BRCA mutations.

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.

Taking advantage of this resource, our laboratory was the first to apply exome sequencing at scale for the discovery of naturally occurring genetic variants (mutations) that cause Mendelian disease in mice.

One advantage of exome sequencing over genome sequencing is that it uncovers genetic variation which we are relatively well - equipped to interpret.

Despite the plummeting costs afforded by newer instruments, sequencing studies remain far more expensive than genotyping studies: exome sequencing costs 3 - 5x more, and whole genome sequencing costs 15 - 20x more.For genetic studies of common complex disease, many researchers now consider 10,000 samples the absolute minimum.

Exome sequencing alone detected driver gene alterations in 26 % of tumors, compared to 72 % by genome sequencing.

In 2012, exome sequencing confirmed the world's first NGLY1 patient — Bertrand Might, a 7 - year - old boy in Salt Lake City.

While not a perfect (or comprehensive) assay, exome sequencing offers an efficient screen of the regions most likely to harbor disease - causing mutations.

On average, exome sequencing uncovers a pathogenic mutation in 25 - 30 % of cases.

We report the development and first applications of an expanded exome sequencing - based test, coupled to a bioinformatics - driven prioritization algorithm, targeting gene disorders presenting with abnormal prenatal ultrasound findings.

And many not - quite - solved cases have promising (if unproven) leads after exome sequencing.

A Novel Genome - Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17.

After a grueling year of tests and hospital stays, exome sequencing finally confirmed Galya's diagnosis: Niemann - Pick type C (NPC), sometimes called «childhood Alzheimer's.»

The human genome contains about 3 billion base pairs, but only about 2 percent of these base pairs represent protein - coding genes, meaning that whole - exome sequencing measures the genetic alterations focused on a small but very important fraction of the genome (as opposed to techniques of whole genome sequencing, which measures every nucleotide across the entire genome, regardless of whether these genes are expressed or silent).

The Yale - led study performed whole exome sequencing ¬ — a technique for sequencing all the expressed genes in a genome ¬ — on TNBC tumors to identify mutations in specific genes or pathways that may indicate response or resistance to the standard of care, which is anthracycline / taxane (ACT) chemotherapy.