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

IPC: G06F19/24 ,  G06F19/22 ,  C12Q1/68

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。

公开(公告)号：US20200318175A1

公开(公告)日：2020-10-08

申请号：US16825238

申请日：2020-03-20

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Rajesh GOTTIMUKKALA ,  Amir MARCOVITZ ,  Jeoffrey SCHAGEMAN ,  Varun BAGAI ,  Jian GU ,  James VEITCH ,  Kelli BRAMLETT ,  Scott MYRAND ,  Fiona HYLAND ,  Seth SADIS ,  Paul WILLIAMS

IPC: C12Q1/6851 ,  G06F17/18 ,  G16B25/10

Abstract: A method for detecting a gene fusion includes amplifying a nucleic acid sample in the presence of primer pool to produce a plurality of amplicons. The primer pool includes primers targeting a plurality of exon-exon junctions of a driver gene. The amplicons correspond to the exon-exon junctions. The amplicons are sequenced and aligned to a reference sequence. The number of reads corresponding to each amplicon is normalized to give a normalized read count. A baseline correction is applied to the normalized read counts for the amplicons to form corrected read counts. A binary segmentation score is calculated for each corrected read count. A predicted breakpoint for the gene fusion is determined based on the amplicon index corresponding to the maximum absolute binary segmentation score. Gene fusion events may be detected in a partner agnostic manner, i.e. without prior knowledge of the specific fusion partner genes or specific breakpoint information.

公开(公告)号：US20240035094A1

公开(公告)日：2024-02-01

申请号：US18366912

申请日：2023-08-08

Applicant: Life Technologies Corporation

Inventor： Charles SCAFE ,  Dumitru BRINZA ,  James VEITCH ,  Rongsu QI ,  Fiona HYLAND

IPC: C12Q1/6886 ,  G16B30/00 ,  G16B40/00 ,  G16B20/10 ,  C12Q1/6851 ,  C12Q1/6869

CPC classification number: C12Q1/6886 ,  G16B30/00 ,  G16B40/00 ,  G16B20/10 ,  C12Q1/6851 ,  C12Q1/6869 ,  G16B30/20

Abstract: A method for detecting large rearrangements in BRCA1 and BRCA2 genes includes amplifying a nucleic acid sample in the presence of a primer pool to produce amplicons, where the primer pool includes target specific primers targeting regions of exons of the BRCA1 and BRCA2 genes. The method further includes sequencing the amplicons to generate a plurality of reads, mapping the reads to a reference sequence, determining a number of reads per amplicon for the amplicons associated with the exons of the BRCA and the BRCA2 genes, determining exon copy numbers for the exons of the BRCA1 and BRCA2 genes based on the number of reads per amplicon, detecting an exon deletion or duplication based on the exon copy numbers, and detecting a whole gene deletion of the BRCA1 or BRCA2 gene based on the number of reads per amplicon associated with the exons of the BRCA1 and BRCA2 genes.

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

IPC: G16B40/10 ,  G16B40/00 ,  G16B30/00 ,  G16B20/00 ,  G16B30/10 ,  G16B30/20 ,  G16B20/20 ,  C12Q1/6869

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.