- 专利标题: Methods and apparatus for identifying alternative splicing events
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申请号: US17256256申请日: 2019-06-26
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公开(公告)号: US12051496B2公开(公告)日: 2024-07-30
- 发明人: Jacques Banchereau , Diogo Fernando Troggian Veiga , Anne Deslattes Mays
- 申请人: The Jackson Laboratory
- 申请人地址: US ME Bar Harbor
- 专利权人: The Jackson Laboratory
- 当前专利权人: The Jackson Laboratory
- 当前专利权人地址: US ME Bar Harbor
- 代理机构: Wolf, Greenfield & Sacks, P.C.
- 国际申请: PCT/US2019/039150 2019.06.26
- 国际公布: WO2020/006028A 2020.01.02
- 进入国家日期: 2020-12-28
- 主分类号: G16H20/40
- IPC分类号: G16H20/40
摘要:
Methods and apparatus for identifying alternative splicing events. The method comprises receiving a dataset of percent spliced in (PS I) values for each of a plurality of biological samples, wherein the plurality of biological samples includes a first population of samples having a first characteristic and a second population of samples having a second characteristic different from the first characteristic, fitting, to the dataset, a probabilistic model to identify clusters of samples in the dataset, calculating cluster characteristics for each of the clusters, filtering the clusters based, at least in part, on the cluster characteristics to identify a subset of clusters, each of which is associated with an alternative splicing event, and storing on the at least one storage device, information associated with the identified alternative splicing events.
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