Melanoma was another cancer type surveyed by
multiple exome sequencing studies in 2011.
Not exact matches
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.
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.
Rare, highly penetrant disorders with
multiple affected samples that have already been screened by
exome sequencing might be the best place to start.
Whole -
exome sequencing has identified the causes of several Mendelian diseases by analyzing
multiple unrelated cases, but it is more challenging to resolve the cause of extremely rare and suspected Mendelian diseases from individual families.
By sequencing the
exomes of
multiple individuals, isolating what we'd call «tier 1» variants — Nonsynonymous, nonsense, splice site, or frameshift - indel — and then removing all known common variants from public databases, Dr. Shendure and colleagues can reduce 20,000 gene candidates down to a handful.
Carrier testing can be ordered in various ways, including targeted single gene disease testing, panel testing of
multiple genetic diseases, or less commonly through a broad genomic test looking for genetic variants throughout the genome or
exome.
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Exome - wide study identifies loci displaying pleiotropic associations with
multiple cardiometabolic traits in continental Africans.