Participating NIH institutes will each contribute genome and exome
sequences from existing research programs to the database, including NHGRIs CLINSEQ program, healthy bone marrow donors from the National Heart, Lung, and Blood Institutes transplant program, the National Institute of Environmental Health Sciences Environmental Polymorphism Study, and others.
The new exome
and custom target enrichment solutions are designed to provide improved performance, versatility and maximum capture efficiency to reduce the overall cost of NGS.
Regeneron expects to complete the exome
sequencing of all 500,000 participants by the end of 2019, with all data made broadly available by UK Biobank to researchers by the end of 2020.
org (accessed January 10, 2017) that provide exome
sequencing diagnostic testing, the most commonly used capture approach involves hybridization with Agilent SureSelect probe technology (Agilent Technologies, Santa Clara, California), followed by Roche Nimblegen Inc (Madison, Wisconsin) and Illumina Inc (San Diego, California), though versions and products vary among different laboratories.
The study evaluated several key metrics of four commercially available clinical exome
Over the next year, the ExAC project aims to include roughly 120,000 exome
sequences and 20,000 genome sequences.
The causative genes of some monogenic disorders, such as disseminated superficial actinic porokeratosis,[sup] have been found by linkage analysis combined with whole exome
sequencing, but we did not find the mutation of these disease-causing genes in some families or sporadic patients, indicating that there may be other causative genes.
Sanger sequencing, targeted NGS panels, or whole exome
Titled "The ICR1000 UK exome
series: a resource of gene variation in an outbred population," the study has been led by Professor Nazneen Rahman and colleagues from the Division of Genetics & Epidemiology at the Institute of Cancer Research and has been published on open science platform F1000Research http://f1000research.
True to our roots, we designed our new exome
release with guidance from the best and brightest minds in the industry.
The work consisted of analysing the exome
from 17 patients diagnosed with bladder cancer and subsequently validating the data via the study of a specific group of genes in 60 additional patients.
Known as the Ion AmpliSeq Exome
Kit and the Ion Proton System, the new solution combines the Ion Reporter CNV data analysis workflow.