Sentences with phrase «with exomes»

Finally, I have a category of «other cancers» with exomes published in 2011; these include pancreastic cysts and cell lines, gastric cancer tumors, and prostate cancer samples derived through mouse xenograft models.

With exome sequencing, this was commonly done on a per - gene or per - exon basis.

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.

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.

By comparing the children's exomes with those of the parents, the researchers have identified new mutations — potential causes of the disorder — in as many as 40 % of the cases.

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.

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.

Separately, Christine Eng, medical director of the DNA Diagnostic Laboratory at the Baylor College of Medicine, says her team has conducted more than 2,000 whole exome tests since October 2011 with about 95 incidental findings.

Without the Ludwig money, the Hopkins group would not have been able to do the cancer genetics studies they're famous for, he notes — for example, the duo has used exome surveys to identify genes associated with colon and breast cancers.

Using whole - exome sequencing to examine portions of DNA containing genetic code to produce proteins, Amin and colleagues found that several variants of NKPD1 were associated with higher depressive symptom scores.

And she worked with the CLINSEQ Study, investigating the experiences of patients who were having their exome sequenced and how they responded to receiving genomic information.

The new mutations were initially identified by sequencing the exomes (protein - coding portions of the genome) of three children with achromatopsia who receive their care at NYPH.

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.

So far they have examined 262 exomes from people with conditions including intellectual disabilities, blindness and cancer.

They announced that they had used exome sequencing to identify people with cystic fibrosis who are at high risk of infection with the bacterium Pseudomonas aeruginosa — associated with worse lung health and survival (Nature Genetics, DOI: 10.1038 / ng.2344).

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).

Dr. Chung and her colleagues discovered the new mutations by sequencing the exomes (the portion of the genome that codes information to make proteins) of families with PAH without identified mutations.

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

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 the disorder.

That's about 2000 years earlier than suggested by previous studies focusing on a different, more selective set of genes known as the exome, but it's in line with recent archaeological findings that point to distinctly Tibetan permanent settlements appearing between 3600 and 5200 years ago, Yang says.

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.

The carrier burden in the NBS set was surprisingly high (0.57 per exome), with 45 % of individuals carrying at least one allele and 11 % carrying at least two alleles.

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.

RGC will provide these centers whole exome sequencing and genome - wide association (with phenotype, where applicable) data free - of - charge.

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

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.

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»).

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.

I work with scientists, clinicians, programmers, and data analysts to understand the genetic basis of inherited pediatric disorders through high - throughput exome and genome sequencing.

Exome sequencing - driven discovery of coding polymorphisms associated with common metabolic phenotypes.

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral - facial - digital syndrome type VI.

They used exome sequencing and immunostaining of DNA damage response proteins in order to evaluate HRR, and findings were then validated in a cohort of breast cancer patients with BRCA1 / 2 mutations who were treated with PARP inhibitors.

A relatively new technology called exome sequencing has identified a few families with novel mutations in their HD genes.

By analyzing these two exomes together with the genome sequence of a Neandertal from Siberia we show that the genetic diversity of Neandertals was lower than that of present - day humans and that the pattern of coding variation suggests that Neandertal populations were small and isolated from one another.

By analyzing these two exomes together with the genome sequence of a Neandertal from Siberia we show that the genetic diversity of Neandertals was lower than...

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.

Using Illumina's TruSeq exome kit and HiSeq 2000 platform, the authors generated ~ 13.4 Gbp of data per sample, achieving 91 % of target bases covered at least 10x, with an average depth of 61x.

The project is establishing an exome catalogue of 2,400 AA, with the ultimate goal of shedding light on the pathogenesis of HTN and associated traits in human populations.

The expanded targeted exome sequencing - based approach described herein (Fetalis), provides strong evidence suggesting a definite and beneficial increase in our diagnostic capabilities in prenatal diagnosis of otherwise chromosomally balanced fetuses with troubling ultrasound abnormalities.

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.

Very recently, a rather limited number of retrospective studies, utilizing whole genome sequencing (Talkowski et al., 2012) or whole exome sequencing (WES) in small cohorts of neonates and aborted fetuses with various ultrasound and / or post-mortem structural abnormalities (Carss et al., 2014; Drury et al., 2015; Alamillo et al., 2015; Westerfield et al., 2015), provided initial proof - of - principle of large - scale prenatal next generation sequencing (NGS).

He noted that there are some ongoing studies that may further inform this difference in the future, including tumor DNA analysis with whole exome sequencing and tumor RNA analysis with RNAseq, evaluation of circulating cell - free tumor DNA, and hypermethylation.

Ongoing T2D research activities at CRGGH include 1) whole - exome sequencing of African families with at least four affected members (data generation is complete and analysis is ongoing), 2) GWAS of 1,200 cases and 1,200 controls from West Africa using the new and more efficient African - centric Affymetrix Axiom genome - wide array with more than 2 million markers, and 3) whole genome expression analysis on skeletal muscle obtained from biopsy from 45 subjects (expression QTL (eQTL) studies on the dataset are complete).

Genomic DNA was isolated using the QIAamp DNA Blood Mini Kit (Qiagen, Valencia, CA, USA), quantified by the Qubit 2.0 fluorometer (Life Technologies, Thermo Fisher Scientific, Waltham, MA, USA), assessed on the Agilent TapeStation 2,200 (Agilent Technologies Inc., USA) and ∼ 120 ng was subsequently subjected to whole exome DNA library construction using the Ion AmpliSeq Whole Exome RDY (Life Technologies, Thermo Fisher Scientific, Waltham, MA, USA) essentially as described in the manufacturer's protocol, with barcode incorporaexome DNA library construction using the Ion AmpliSeq Whole Exome RDY (Life Technologies, Thermo Fisher Scientific, Waltham, MA, USA) essentially as described in the manufacturer's protocol, with barcode incorporaExome RDY (Life Technologies, Thermo Fisher Scientific, Waltham, MA, USA) essentially as described in the manufacturer's protocol, with barcode incorporation.

Ongoing hypertension research activities in the branch include whole - exome sequencing of AA families with multiple affected members and inclusion in the Minority Health Genomics and Translational Research Biorespository Database (MH - GRID) Network.

But we got it done, and the findings were striking: the number of coding mutations in HSC exomes directly correlated with the age of the volunteer.

This month in Nature, researchers from BC Cancer Agency have characterized the landscape of genomic aberrations in 104 TNBC cases with a combination of whole - genome sequencing, exome sequencing, RNA - seq, and high - density SNP arrays.