Sentences with phrase «exome data»

The analysis of exome data fared little better, I'm afraid.

Given exome data for a tumor and its matched (usually blood) normal sample, VarScan 2 identifies SNVs and indels and classifies them according to somatic status: Germline (inherited), loss of heterozygosity (LOH), and somatic (acquired).

We developed a web - based variant database to enable user - defined queries and we are currently working on the development of new approaches for the optimized analysis of exome data, particularly for unsolved exome cases.

But our variant analysis of the exome data revealed that there was one variant that was present in every affected, absent from every unaffected, and as - yet - unknown to dbSNP.

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 (ESP).

Holly Tabor et al analyzed de-identified exome data from 6,517 individuals obtained from NHLBI's Exome Sequencing Project (ESP).

Not exact matches

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

Our hope is that using the more targeted whole - exome - sequencing process will provide the necessary data to guide public health decisions related to cancer prevention.»

Using technologies like whole genome or whole exome (the protein - coding portion of the genome) sequencing requires specialized equipment and advanced data analysis and is still relatively expensive.

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.

The study compared whole - exome sequencing data from 19 patient samples of mucosal melanoma to 135 samples of sun - exposed melanoma.

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.

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.

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.

Bioinformatics services include data QC, outlier detection and general data management, and data analysis from platforms including Illumina or Affymetrix microarrays, RNA - Seq, SNP arrays, Exome - sequencing, ChIP - chips and CHIP - seq.

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.

The Alzheimer's Disease Sequence Project (ADSP) group is analyzing whole genome and whole exome sequence data generated from samples relevant to Alzheimer's disease.

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.

Although the Fetalis pipeline is currently targeting and evaluating variants detected only in the 758 genes, the initial step in the analysis involves construction of a whole exome (WES) library and therefore whole - exome variant data are readily available.

The exome sequences of 1,535 Kronos and 1,200 Cadenza mutants have been re-sequenced using Illumina next - generation sequencing, the raw data aligned to the IWGSC Chinese Spring chromosome arm survey sequence, mutations identified, and their effects predicted based on the protein annotation available at the Ensembl Plants archive site.

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).

We have re-sequenced the exome of 1,535 Kronos and 1,200 Cadenza mutants using Illumina next - generation sequencing, aligned this raw data to the IWGSC Chinese Spring chromosome arm survey sequence, identified mutations, and predicted their effects based on the protein annotation available at Ensembl Plants.

We therefore performed two independent phylogenetic analyses based on larger subsets of the nuclear data, whole - exome sequences and all polymorphic sites, to reconstruct the most likely relationships between ancient and modern horses.

Only with the data being generated, the RD - Cat platform will contain almost 1,000 exomes and genomes before the end of the project.

The user - friendly interface lets users, even without bioinformatic training, analyse Next - Generation Sequencing (NGS) data, such as genomes and exomes, and share them with other researchers.

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.

An open - source C / C + + library of analytical tools for human genetic variation data from whole - exome and whole - genome studies.

The 1,000 Genomes Project contributed genome - wide data for 2,504 individuals from several continental groups, while the Exome Aggregation Consortium (ExAC) has compiled gene - centric data from 60,706 individuals at the time of writing.

Reanalysis of patient exome or whole genome data may be appropriate in the future.

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.

He currently coordinates the Exome Aggregation Consortium (ExAC), which has aggregated and jointly processed exome sequence data from over 60,000 individuals, made publicly available through the widely - used ExAC browser (exac.broadinstitute.Exome Aggregation Consortium (ExAC), which has aggregated and jointly processed exome sequence data from over 60,000 individuals, made publicly available through the widely - used ExAC browser (exac.broadinstitute.exome sequence data from over 60,000 individuals, made publicly available through the widely - used ExAC browser (exac.broadinstitute.org).

Thanks to efforts like the Exome Aggregation Consortium, we now have allele frequency data from cohorts of more than 50,000 individuals.

Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta - analysed these data with data from another 3,287 individuals with similar disorders.

Modern disease studies rely heavily on exome sequencing, yet an adequate method for the detection of structural mosaicism using targeted sequencing data is lacking.

12/2: 45 Improved identification of the genetic basis of disease by integrated analysis of RNA - seq together with whole - genome and exome - based sequencing data.

The Mouse Genomes Project and Sanger Mouse Exomes Project releases sequence data, SNPs and other variant calls as a service to the research community.

In a retrospective study, we further illustrate the application of PVP for the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism.

I also analysed exome sequencing data for rare genetic disorders and identified the underlying gene for TAR syndrome and Gray Platelet Syndrome.

A link between genes near an individual's disrupted transcription factor binding sites and their phenotype data is established in this paper, in a further foray beyond the exome: http://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1004711.

With access to data on up to 10,000 families, the consortium aims to use a combination of whole - genome sequencing and whole - exome sequencing to identify and validate further at - risk genes and clarify genotype - phenotype relationships [53].

I mainly work on data generated by whole genome sequencing, whole exome sequencing, targeted resequencing, RNA - seq and Nanopore Sequencing using MinION.