Sentences with phrase «exome sequencing in»

Report: Whole exome sequencing in patients with OI identified, in two patients with a multi-system phenotype, compound heterozygous variants in NBAS (neuroblastoma amplified sequence).

Exome sequencing in the context of developmental disorders is a useful technique, but variants found need to be interpreted in the context of detailed phenotypic information.

9/4: 00 Whole exome sequencing in 75 high - risk families identifies eight previously unknown prostate cancer susceptibility genes.

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

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.

Title: The BabySeq Project: Preliminary Findings from a Randomized Trial of Exome Sequencing in Newborns

9:45 am: Robert Green (Platform presentation)- The BabySeq Project: Preliminary Findings from a Randomized Trial of Exome Sequencing in Newborns

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.

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.

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

Not exact matches

But rather than buying up a genetic research outfit, it decided to build its own in the form of the Regeneron Genetics Center (RGC), an ambitious four - year old effort to sequence as many exomes (the protein - encoding part of the genome) as possible, pair them with medical records, and accelerate drug development.

In the study, whole - exome sequencing and a targeted analysis of 90 genes implicated in heart disease were applied to 419 unrelated SIDS caseIn the study, whole - exome sequencing and a targeted analysis of 90 genes implicated in heart disease were applied to 419 unrelated SIDS casein heart disease were applied to 419 unrelated SIDS cases.

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.

In addition, they also used exome sequencing and RNAseq — sequencing directly targeted to the SHIP1 gene — to examine the structure of the SHIP1 gene at both the DNA and the RNA level.

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

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.

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.

In a similar case with a 12 - year - old whose exome was sequenced without any family data, Phevor built on the analysis of VAAST to identify a gene mutation causing the illness, another autoimmune syndrome.

To answer the question, the group performed «whole exome sequencing» of family members to, effectively, take snapshots of each protein - producing gene in the chromosomes of these people predisposed to ALL.

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.

Using a technique known as exome sequencing, the researchers identified mutations in PARN and RTEL1 in 12 percent of these families.

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.

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).

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 tumorIn 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 tumorin Seoul, performed whole exome sequencing on samples from paired synchronous primary and metastatic tumors.

«To date we have over 350 phenotypes enrolled in our study with over 3,200 patient samples having undergone exome sequencing.

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.

Using whole exome sequencing (a next generation test to analyze the exons or coding regions of thousands of genes simultaneously) conducted at the Baylor College of Medicine Human Genome Sequencing Center, the researchers identified CLP1 mutations in two unrelated families with thesequencing (a next generation test to analyze the exons or coding regions of thousands of genes simultaneously) conducted at the Baylor College of Medicine Human Genome Sequencing Center, the researchers identified CLP1 mutations in two unrelated families with theSequencing Center, the researchers identified CLP1 mutations in two unrelated families with the disorder.

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.

But full sequencing will soon be just as cheap as exome sequencing and will catch disease mutations in noncoding regions as well, Gibbs notes.

Today in The New England Journal of Medicine, researchers report that using exome sequencing, they successfully identified the mutations underlying the conditions of 25 % of 250 patients, most children with neurological disorders.

When the team checked the DNA of a larger group of nearly 111,000 people, they found that about one in 200 carried one of the four APOC3 variants, reported Jacy Crosby of the University of Texas Health Science Center, Houston, who represented a large consortium called the National Heart, Lung, and Blood Institute Exome Sequencing Project.

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

Much discussion still must be had in regard to preconception counseling, expanded carrier screening, whole genome and whole exome sequencing, and the role any of these tests could play in a decision to continue a pregnancy or perform fetal therapy.

While there remain challenges in unambiguously determining an individual's genome or exome sequence [1, 2], our focus here is on the downstream interpretation of that sequence.

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.

His collaborators, a team of experts in the genetics of skin disease, found interesting and unexpected variations in whole exome sequencing data from patients with eczema.

The freely - available software package, MendelScan, is designed to help researchers score and prioritize candidate variants in family exome sequencing studies of Mendelian disease.

In 2014 alone, scientists successfully sequenced the mitochondrial genome of a hominin that lived more than 400,000 years ago, 1 exomes from the bones of two Neanderthal individuals more than 40,000 years old, 2 and a nearly complete nuclear genome from a 45,000 - year - old modern human fossil, 3 to name but a few.

Whole - exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes Lohmueller, K. E., T. Sparsø, Q. Li, E. Andersson et al. 2013.

In my last post, I wrote about the return of results from next - gen sequencing, specifically a recent paper in AJHG about secondary findings in ~ 6500 ESP exomeIn my last post, I wrote about the return of results from next - gen sequencing, specifically a recent paper in AJHG about secondary findings in ~ 6500 ESP exomein AJHG about secondary findings in ~ 6500 ESP exomein ~ 6500 ESP exomes.

My first post in 2015 was uncannily prescient: it reviewed a study that uncover rare variants associated with myocardial infarction using exome data from NHLBI's Exome Sequencing Project (exome data from NHLBI's Exome Sequencing Project (Exome Sequencing Project (ESP).

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

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.

Conte et al applied linkage mapping and exome sequencing of a five - generation British family with dominant retinal degeneration and bilateral iris coloboma («holes in the iris»).

Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population Li, S., S. Besenbacher, Y. Li, K. Kristiansen et al. 2014.

Today we'll delve into another paper in the same issue on the attitudes of genetics professionals on return of incidental findings from whole genome sequencing (WGS) and exome sequencing (ES).