- 专利标题: Techniques for fine grained correction of count bias in massively parallel DNA sequencing
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申请号: US15717152申请日: 2017-09-27
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公开(公告)号: US11127485B2公开(公告)日: 2021-09-21
- 发明人: John Burke , Brian Rhees
- 申请人: Echelon Diagnostics, Inc.
- 申请人地址: US NV Reno
- 专利权人: Echelon Diagnostics, Inc.
- 当前专利权人: Echelon Diagnostics, Inc.
- 当前专利权人地址: US NV Reno
- 代理机构: Wolter VanDyke Davis, PLLC
- 代理商 Eugene J. Molinelli
- 主分类号: G16B30/00
- IPC分类号: G16B30/00 ; C12Q1/6874 ; G01N33/48 ; G16B25/00 ; G16B20/00 ; G16B20/10 ; G16B30/10
摘要:
Techniques for automated determination or correction of count bias are based on nucleic acid base content on a finer grained scale than a bin of interest in a target sequence. The techniques include obtaining a target sequence with bins where relative abundances indicate a condition and raw counts Hj of reads, from a subject, which start at each locus j. A partition indicates a fine-grained window at a position relative to a current locus and multiple strata indicating different base contents. Each locus is attributed to one stratum k(j). An expected count of each stratum, E(k), is determined based on Hj for j belonging to the stratum and a number of loci in the target belonging to the stratum. A copy number of a bin is based on a sum of E(k(j)) in the bin. Output data indicates condition of the subject based at least partly on the copy number.
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