exome


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ex·ome

 (ĕk′sōm′)
n.
The complete set of protein-coding sequences (exons) of a genome.

References in periodicals archive ?
Databases such as the 1000 Genomes Project and the Exome Aggregation (link is external) Consortium (ExAC) harbor large numbers of genotypes (an individuals collection of genes).
Twist Bioscience Corporation has launched several new products to enhance next-generation sequencing including its Twist Human Core Exome Kit, an innovative and comprehensive library preparation and target enrichment kit, and its Custom Panels offering, that can be tailored to individual requests.
to fund the generation of genetic exome sequence data from the 500,000 volunteer participants who make up the UK Biobank health resource, the company said.
A single exome generates approximately 30 000 variants and a genome generates more than 3 million variants that differ from the human reference genome.
1) Panels range from those that cover the human exome to those specifically targeting a particular disease or range of conditions, such as cancers, and inherited and rare diseases.
Researchers associated with the Exome Aggregation Consortium (ExAC) have catalogued and released the gene sequencing data of over 60,000 unrelated individuals.
sup][3] further confirmed the pathogenic role of NCSTN mutations in AI by combining exome sequencing with previous genome-wide linkage analysis.
Catalyzed by the adoption of exome sequencing, an increasing need to evaluate the validity and strength of gene--disease association claims has emerged and adds yet another dimension to the already complex process of genomic data curation and interpretation.
New research examined information from women diagnosed with cancer between 1988 and 2013; the study examined exome sequencing (exomes are the protein-coding genes) and gene expression data from 663 and 711 White, and 105 and 159 African American women, respectively.
com)-- The paper, which will be invaluable for clinical genomics and translational research, makes large-scale gene variation from exome sequence data from the UK general population, openly available for the first-time.
PierianDx has released a new version of its bioinformatics software platform that will address exome sequencing workflow.
Real, head of the Epithelial Carcinogenesis Group and Nuria Malats, head of the Genetic and Molecular Epidemiology Group, have carried out the first exome sequencing for non-infiltrating bladder cancer, the most frequent type of bladder cancer and the one with the highest risk of recurrence (the exome is the part of the genome that contains protein synthesis information).