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1.发明申请METHODS, SYSTEMS, AND COMPUTER-READABLE MEDIA FOR CALCULATING CORRECTED AMPLICON COVERAGES 审中-公开用于计算校正的AMPLICON封面的方法，系统和计算机可读介质公开(公告)号：US20160103957A1
公开(公告)日：2016-04-14
申请号：US14879533
申请日：2015-10-09
Applicant: LIFE TECHNOLOGIES CORPORATION
Inventor： James VEITCH , Yiping ZHAN
CPC classification number: G16B40/00 , C12Q1/6869 , G16B20/00 , G16B30/00
Abstract: Methods, systems, and computer-readable media are disclosed for calculating corrected amplicon coverages. One method includes: mapping a plurality of reads of a plurality of amplicons based on amplified target regions of a sample suspected of having one or more genetic abnormalities to a reference sequence that includes one or more nucleic acid sequences corresponding to the amplified target regions; calculating amplicon coverages and total reads, wherein amplicon coverages is a number of reads mapped to an amplicon, and total reads is a number of mapped reads; and calculating corrected amplicon coverages based on the calculated amplicon coverages and calculated total reads by applying a batch effect correction.
Abstract translation: 公开了用于计算校正的扩增子覆盖物的方法，系统和计算机可读介质。 一种方法包括：基于被怀疑具有一个或多个遗传异常的样本的扩增的目标区域将多个扩增子的多个读取映射到包括与扩增的目标区域相对应的一个或多个核酸序列的参考序列; 计算扩增子覆盖率和总读数，其中扩增子覆盖是映射到扩增子的多个读取，并且总读取是映射读取的数量; 并且通过应用批量效应校正，基于计算的扩增子覆盖率和计算的总读数计算校正的扩增子覆盖率。
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2.发明申请公开(公告)号：US20210358572A1
公开(公告)日：2021-11-18
申请号：US17443917
申请日：2021-07-28
Applicant: LIFE TECHNOLOGIES CORPORATION
Inventor： James VEITCH , Yiping ZHAN
Abstract: Methods, systems, and computer-readable media are disclosed for calculating corrected amplicon coverages. One method includes: mapping a plurality of reads of a plurality of amplicons based on amplified target regions of a sample suspected of having one or more genetic abnormalities to a reference sequence that includes one or more nucleic acid sequences corresponding to the amplified target regions; calculating amplicon coverages and total reads, wherein amplicon coverages is a number of reads mapped to an amplicon, and total reads is a number of mapped reads; and calculating corrected amplicon coverages based on the calculated amplicon coverages and calculated total reads by applying a batch effect correction.
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