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1. (WO2015123600) METHOD AND PROCESS FOR WHOLE GENOME SEQUENCING FOR GENETIC DISEASE DIAGNOSIS

Pub. No.:    WO/2015/123600    International Application No.:    PCT/US2015/015956
Publication Date: Fri Aug 21 01:59:59 CEST 2015 International Filing Date: Sat Feb 14 00:59:59 CET 2015
IPC: G06F 19/18
Applicants: THE CHILDRENS'S MERCY HOSPITAL
Inventors: KINGSMORE, Stephen
WILLIG, Laurel, K.
MILLER, Neil
Title: METHOD AND PROCESS FOR WHOLE GENOME SEQUENCING FOR GENETIC DISEASE DIAGNOSIS
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.