Sentences with phrase «clinical exome»

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

Not exact matches

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

To search for other characteristics of ccRCC tumors that influences immunotherapy response or resistance, the researchers used whole - exome DNA sequencing to analyze tumor samples from 35 patients treated in a clinical trial with the checkpoint blocker nivolumab (Opdivo).

This success rate suggests that exome sequencing could be used routinely for clinical diagnosis of a variety of rare genetic conditions.

Last year, the American College of Medical Genetics published their recommendations concerning the return of «incidental findings» to patients who undergo whole - genome or exome sequencing in clinical settings.

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.

Another collaboration was unfolding among the cancer geneticists, sequencing experts, clinical researchers, and surgical oncologists at Johns Hopkins, MD Anderson, and Baylor College of Medicine to study 32 pairs of head and neck tumor and normal tissue samples by whole - exome sequencing and validate the findings in an additional 88 samples.

A Next - Generation Framework: Deciding On The Role Of Costs In The Clinical Use Of Targeted Gene Panels, Exome And Genome Sequencing.

For discovery purposes, Whole Exome Sequencing (WES) variant prioritization coupled with clinical and bioinformatics expertise is currently the primary method used to identify novel disease - causing variants, however, causation is often difficult to establish due to the number of plausible variants.

Seventy - seven cases from two neoadjuvant aromatase inhibitor clinical trials underwent next - gen sequencing (46 whole - genome, 31 exome).

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..

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.

Katta Mohan Girisha and colleagues conduct a whole exome sequencing on a child with a clinical phenotype of the child shows significant overlap with cranioectodermal dysplasia type I (Sensenbrenner syndrome).

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.

For the First Time, Recommendations Offer Guidance about Incidental Findings in Clinical Genomic Sequencing: Brigham and Women's Hospital, March 21, 2013: In a highly anticipated report, landmark recommendations on the handling of incidental findings in clinical genome and exome... Continue rClinical Genomic Sequencing: Brigham and Women's Hospital, March 21, 2013: In a highly anticipated report, landmark recommendations on the handling of incidental findings in clinical genome and exome... Continue rclinical genome and exome... Continue reading →

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

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.

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.

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

351/10: 30 Combined analysis of over 60,000 exomes: Genic constraint, widespread mutational recurrence, and impact on clinical variant interpretation.

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

Given that WDR26 mutations have been identified in ∼ 1 in 2,000 of subjects in our clinical cohorts and that WDR26 might be poorly annotated in exome variant - interpretation pipelines, we would anticipate that this disorder could be more common than currently appreciated.

Develop a targeted family history to assess genetic risks in children and adolescents Identify clinical indications for whole exome / whole genome sequencing