Page 2 - ASHG 2012 Annual Meeting Program Guide

One Baylor Plaza, Nab 2015, Houston, Texas 77030 • 713-798-6555
1-800-411-
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whole exome sequencing
Developed jointly by the Human Genome Sequencing Center
(
HGSC), the Department of Molecular and Human Genetics
and the Medical Genetics Laboratories of the Baylor College of
Medicine, the Whole Genome Sequencing Laboratory (WGL)
applies the power of next generation sequencing technology to
clinical genetics in a CLIA high complexity testing laboratory with
clinical interpretation of the sequence information. Whole Exome
Sequencing (WES) is poised to change the current paradigm of
genetic testing for Mendelian disorders, pharmacogenetic traits,
and potentially complex traits. Rather than limiting testing to a
single gene or panel of genes and incurring diagnostic delays and
escalating costs, the Whole Exome Sequencing test will sequence
nucleotide by nucleotide, the human exome to the depth of coverage
required to achieve a consensus sequence with high accuracy. Point
mutations, small insertions and deletions of the exome are routinely
detected by this methodology. The team curating the Whole Exome
Sequencing test focuses the report on on known or predicted
deleterious mutations in genes associated with patient’s clinical
problems; however, significant potentially medically actionable
findings in other genes of interest as well as the option for reporting
autosomal recessive carrier status are included in the focused whole
exome report.