Sentences with phrase «exome sequencing for»

The team plans to accomplish this goal by expanding whole genome or exome sequencing for patients, using patient - derived cells to discover new disease mechanisms, and personalized drug library screening.

This was a well - written paper that showcased some of the advantages to whole - genome sequencing over exome sequencing for uncovering the genetic basis of rare diseases.

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.

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.

We also sequence other parts of your DNA outside of your exome that we believe can be useful for some DNA Products.

Reis's group, the German Mental Retardation Network, has already sequenced the exomes — the 1 — 2 % of the genome that contains instructions for building proteins — of about 50 patients with severe intellectual disability.

Over the course of a year, a committee led by Green and Leslie Biesecker, chief of the Genetic Disease Research Branch at the National Human Genome Research Institute in Bethesda, Maryland, has been weighing how to handle «incidental findings» that turn up when a genome or exome is sequenced for some other medical reason.

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.

The team integrated three, complementary gene sequencing approaches to look for mutations in tumor cells from SS patients: whole - genome sequencing in six subjects, sequencing of all protein - coding regions (exomes) in 66 subjects, and comparing variation in the number of copies of all genes across the genome in 80 subjects.

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).

Therefore, we sequenced the whole exomes of 98 HCCs from two hospitals in Taiwan and found that 78 % showed the distinctive mutational signature of AA exposure, accounting for most of the nonsilent mutations in known cancer driver genes.

To determine the genetic basis for his exceptional response, researchers at the Dana - Farber Cancer Institute, Stanford University, Brigham and Women's Hospital and elsewhere performed targeted and whole - exome sequencing on his leukemic cells.

The study used whole - exome sequencing to characterize genetic alterations that occur at the single nucleotide level for all genes in 25 cell lines commonly used as models of bladder cancer.

Stephen W. Scherer, Ph.D., of the Hospital for Sick Children, Toronto, and colleagues performed chromosomal microarray analysis (CMA) and whole - exome sequencing (WES) in a group of 258 unrelated children with ASD to determine the molecular diagnostic yield (the percentage of subjects with a genetic alteration [mutation] that may contribute to the features of autism spectrum disorder) of these tests.

«For our study, we examined 19 autonomous adenomas using whole exome sequencing,» Calebiro describes their approach.

«They're doing 50 genes rather than a whole exome» for a gene sequencing study.

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).

The Wellcome Trust's Sanger Institute has agreed to sequence exomes (protein - coding DNA) for the first 25,000 participants, hopefully by the end of 2017, van Heel says.

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

As it turns out, the same mutations could have been found by sequencing only the protein - coding regions of the genome — called exome sequencing — for about $ 4000.

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.

They sequenced the protein - coding DNA, or exomes, of 3734 white and African - American volunteers, then combed through the data for genetic variants linked to triglyceride levels.

The idea is to sequence the 1 % of the patient's DNA that codes for protein — the «exome» — then sift the data for the genetic culprit behind the disease.

We prepare and normalize libraries for RNA - seq, miRNA - seq, DNA - Seq, ChIP - seq, targeted exome sequencing, amplicon sequencing, bacterial 16S metagenomics and whole genome sequencing.

Exome sequencing and whole genome sequencing for the detection of copy number variation.

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.

Within RD - Connect's sister project Neuromics, Hanns was the disease coordinator for the congenital myasthenic syndromes, and in this and several other exome sequencing projects was responsible for gene discovery and work on disease modifying factors influencing severity of phenotype.

Remember, the success rate for exome sequencing of rare genetic disorders hovers at around 30 % overall.

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.

Our products are designed for sequencing analysis of DNA in whole genome, whole exome, epigenetics, or amplicon applications.

(A) Maximum likelihood chronogram for horses based on whole - exome sequences and rooted using the domestic donkey as an outgroup.

For each sample, single HSCs were isolated and grown into colonies of homogenous cells to obtain enough DNA for exome sequenciFor each sample, single HSCs were isolated and grown into colonies of homogenous cells to obtain enough DNA for exome sequencifor exome sequencing.

In 2014 the CNAG - CRG together with CIBERER launched a call to the Spanish research community offering free - of - charge Whole Exome Sequencing and bioinformatic analysis for disease gene identification in rare disorders.

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..

As you probably know, I'm a fan of exome sequencing, particularly for studies of rare inherited disorders.

A fundamental weakness of exome chip designs (and exome sequencing, for that matter) is the emphasis of known genes.

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.

Next, the authors selected 45 of the 58 exome - negative individuals for whole genome sequencing.

Whole - genome sequencing generates the order of all three billion chemical components in a genome, while whole - exome sequencing targets the 1 to 2 percent of a person's genome that codes for proteins.

Dr. Shendure's research group in Seattle pioneered exome sequencing and its earliest applications to gene discovery for Mendelian disorders (e.g. Miller and Kabuki syndrome) and autism; cell - free DNA diagnostics for cancer and reproductive medicine; massively parallel reporter assays and saturation genome editing; whole organism lineage tracing; and massively parallel molecular profiling of single cells.

We have in - house computational pipelines built for metagenomic viral discovery, RNASeq quantification, exome sequencing and whole genome sequencing for variants detection using GATK, Affymetrix & Illumina expression array and SNP chips, GWAS, digital PCR analysis, mass spectrometry and biomarker discovery.

The authors combined exome sequencing data from 10,437 individuals representing five ancestry groups (European, South Asian, East Asian, Hispanic, and African American) with equivalent data from the WGS study for a joint dataset comprising 12,940 individuals.

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 reading →

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.

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

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.

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.

Genetic Diagnosis of High - Penetrance Susceptibility for Colorectal Cancer (CRC) Is Achievable for a High Proportion of Familial CRC by Exome Sequencing.

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.

Genome and Exome Sequencing: Genome and exome sequencing has increasing utility for diagnosing disease and informing treatment decisExome Sequencing: Genome and exome sequencing has increasing utility for diagnosing disease and informing treatment Sequencing: Genome and exome sequencing has increasing utility for diagnosing disease and informing treatment decisexome sequencing has increasing utility for diagnosing disease and informing treatment sequencing has increasing utility for diagnosing disease and informing treatment decisions.