METHOD AND PROCESS FOR WHOLE GENOME SEQUENCING FOR GENETIC DISEASE DIAGNOSIS
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United States of America Patent
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Issued Date -
Mar 2, 2017
app pub date -
Feb 13, 2015
filing date -
Feb 13, 2014
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Abstract
The process of the present invention is used to perform nucleotide sequence variant detection using two or more independent analysis methods to produce a superset of highly sensitive variant calls. The process of the present invention is used for genetic disease diagnosis including the steps of genome sequencing, creating a superset of sensitive variant calls by using at least two independent analysis methods, comparing a database of genetic diseases with disease phenotype information to produce a prioritized list of probable genetic diseases, and integrating the superset of sensitive variant calls and the prioritized list of probable genetic diseases.
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