Sentences with phrase «which exome sequencing»

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.

Although many conditions may be simpler to diagnose by reading symptoms, we are rapidly nearing a point at which exome sequencing could be used to spot diseases before their effects are felt, or predict how people might respond to drugs or vaccination.

Not exact matches

Unlike genotyping, which just looks for specific parts of DNA and pieces them together, next - generation sequencing looks at only the protein - encoding parts of your genome, called the exome.

Using a gene - sequencing technique known as whole - exome sequencing that targets only the DNA that encodes proteins, the researchers cataloged virtually every significant DNA variant in three families in which the condition is common.

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

Joining the hunt is a UK - based program called Deciphering Developmental Disorders, which expects to sequence 1,000 exomes by the year's end, with an ultimate goal of diagnosing up to 12,000 British children with developmental delay.

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.

Researchers discovered the association between ETV6 and childhood ALL by sequencing the whole exome of a family in which the mother and two of the three children have a history of pediatric ALL.

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).

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

Through the combination of linkage data and exome sequencing, they have identified a deletion or loss of a single base in the gene encoding STAG3, which results in a prematurely truncated protein without function.

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.

Whole - exome sequencing of 238 African American subjects identified 6 rare missense variants within the EOAD genes, which were observed in AD cases but never among controls.

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

For this compilation, I've emphasized publications in which whole - genome or exome sequencing was employed to multiple tumors or cancer cell lines, with the goal of identifying significantly altered genes or pathways in malignant cells.

I'm thrilled that we've partnered with them and the Department of Pathology to start a Genomics Pediatric Board which will apply panel, exome, and whole genome sequencing to children afflicted with severe genetic diseases and their family members.

Presentations included: Genetics Primer & Clinical Updates by Linford Williams, MS, LGC; Genetics and Women's Health: Seeing and Foreseeing the Ethical Challenges Ahead by Ruth Farrell, MD, MA; Preimplantation Genetic Screening and Diagnosis: What You Need to Know by Marissa Coleridge, MS, LGC; Evolution of Prenatal Genetic Screening and Testing: NIPT and Beyond by Jeff Chapa, MD, MBA; Promises and Pitfalls of Prenatal Whole Exome Sequencing by Amanda Kalan, MD; Fertility Preservation and Cancer: Survivors, Previvors, and the Newly Diagnosed by Rebecca Flyckt, MD; Improving Access to Cancer Genetics via Telegenetics by Ryan Noss, MS, LGC; Breast Cancer: Management of Moderate Penetrance Predisposition Genes by Holly Pederson, MD; Use of Hormonal and Non-hormonal Therapies in Breast Cancer Survivors and Women at High Risk for Breast / Gyn Cancers by Holly Thacker, MD; Addressing Commonly Asked Patient Questions about Genetics by Rebekah Moore, MS, LGC, Christina Rigelsky, MS, LGC and Allison Schreiber, MS, LGC; and a panel discussion on Genetic Testing Reimbursement featuring Bruce Rogen, MD, MPH and John Yao, MD, MBA, MPH, which was moderated by Daniel Sullivan, MD..

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.

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.

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.

We performed exome sequencing in 13 parent - offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense variants (two of which arose de novo) in the highly conserved gene NR2F2.

He currently coordinates the Exome Aggregation Consortium (ExAC), which has aggregated and jointly processed exome sequence data from over 60,000 individuals, made publicly available through the widely - used ExAC browser (exac.broadinstitute.Exome Aggregation Consortium (ExAC), which has aggregated and jointly processed exome sequence data from over 60,000 individuals, made publicly available through the widely - used ExAC browser (exac.broadinstitute.exome sequence data from over 60,000 individuals, made publicly available through the widely - used ExAC browser (exac.broadinstitute.org).

TCGA researchers completed whole - exome sequencing, which examines the protein - coding regions of the genome, on an unprecedented 316 tumors.

We identified two genes in which rare coding - sequence mutations were more frequent in MI cases versus controls at exome - wide significance.

Targeted sequencing, in which only a selected set of genomic loci are sequenced, enables a much higher coverage of each target than what is obtained using whole genome or exome sequencing.

kdm2aa mutant fish also develop melanomas from early adulthood onwards which are independent from mutations in braf and other common oncogenes and tumour suppressors as revealed by deep whole exome sequencing.