Sentences with phrase «gene panel sequencing»

Anne Marie Jelsig and colleagues conduct gene panel sequencing expirements26 hamartomatous polyposis - associated genes on patients with hamartomatous polyps in the GI tract has a hereditary Hamartomatous Polyposis Syndrome with an increased risk of cancer.

Not exact matches

Canadian researchers conducted a pilot study with 20 newborns to determine the effectiveness of a targeted next - generation sequencing panel that included all 4813 genes currently known to be associated with rare diseases.

It currently analyses a panel of multiple cancer predisposition genes thanks to new - generation sequencing techniques.

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

Using DECoN (which stands for Detection of Exon Copy Number variants), the researchers took advantage of the high density of sequencing data available in new gene panels to accurately detect deletions or duplications of exons.

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..

Dr. Funke describes next - generation sequencing (NGS) with a focus on gene panel testing for inherited conditions.

Using examples including hereditary breast cancer, Dr. Lacbawan explores the diagnostic applications of sequencing, comparing when to use next generation cancer gene panels versus gene by gene testing.

Yet most test providers actually perform exome sequencing, but limit their reports the panel genes.

The MyAML and MyHEME cancer panels are designed to analyze and interpret sequence information in genes known or suspected to be involved in AML and other hematologic diseases, respectively.

We sequenced whole genomes or a panel of 365 genes on 299 samples from 170 patients with locally relapsed or metastatic breast cancer.