公开(公告)号：US20190017116A1

公开(公告)日：2019-01-17

申请号：US15647414

申请日：2017-07-12

Applicant: Macau University of Science and Technology

Inventor： Liang Liu ,  Lai Han Leung ,  Ying Li ,  Xiao Jun Yao ,  Hu Dan Pan

IPC: C12Q1/68 ,  G06F19/22 ,  G06F19/28 ,  G06F19/12

Abstract: A method of identifying a gene associated with a disease or pathological condition of the disease includes: a) obtaining a first group of exome sequences from a first population suffering from the disease or pathological condition and a second group of exome sequences from a second population not having the disease or pathological condition; b) identifying one or more variants in the first group by comparing it with the second group, and optionally with a public database, to generate a first set of variant data; c) applying a variant quality score calibration tool with a truth sensitivity threshold to remove false-positive variants having a sensitivity lower than the threshold and background variants from the first set of variant data so as to obtain a second set of variant data; d) removing synonymous variants from the second set of variant data to obtain a third set of variant data; and e) identifying one or more deleterious variants from the third set of variant data using a gene burden analysis, optionally generating a fourth set of variant data.

公开(公告)号：US10787708B2

公开(公告)日：2020-09-29

申请号：US15647414

申请日：2017-07-12

Applicant: Macau University of Science and Technology

Inventor： Liang Liu ,  Lai Han Leung ,  Ying Li ,  Xiao Jun Yao ,  Hu Dan Pan

IPC: C12Q1/6883 ,  G16B30/00 ,  G16B50/00 ,  G16B20/20 ,  G16B5/00 ,  G16B15/00 ,  G16B40/20 ,  C12Q1/6869

Abstract: A method of identifying a gene associated with a disease or pathological condition of the disease includes: a) obtaining a first group of exome sequences from a first population suffering from the disease or pathological condition and a second group of exome sequences from a second population not having the disease or pathological condition; b) identifying one or more variants in the first group by comparing it with the second group, and optionally with a public database, to generate a first set of variant data; c) applying a variant quality score calibration tool with a truth sensitivity threshold to remove false-positive variants having a sensitivity lower than the threshold and background variants from the first set of variant data so as to obtain a second set of variant data; d) removing synonymous variants from the second set of variant data to obtain a third set of variant data; and e) identifying one or more deleterious variants from the third set of variant data using a gene burden analysis, optionally generating a fourth set of variant data.