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    SYSTEMS AND METHODS FOR IDENTIFYING SOMATIC MUTATIONS
    1.
    发明申请
    SYSTEMS AND METHODS FOR IDENTIFYING SOMATIC MUTATIONS 有权

    公开(公告)号：US20230083827A1

    公开(公告)日：2023-03-16

    申请号：US17932712

    申请日：2022-09-16

    Applicant: LIFE TECHNOLOGIES CORPORATION

    Inventor： Alexander Joyner ,  Fiona HYLAND ,  Heinz BREU

    IPC: G16B20/20 ,  G16B30/00 ,  G16B30/10

    Abstract: Systems and method for identifying somatic mutations can receive first and second sequence information, determine if a variant present in the first sequencing information is also present in the second sequence information, and identify variants present in the first sequence information are somatic mutations when the variant is either not present in the second sequence information or the presence of the variant in the second sequence information is likely due to a sequencing error.

    SYSTEMS AND METHODS FOR IDENTIFYING SEQUENCE VARIATION ASSOCIATED WITH GENETIC DISEASES
    2.
    发明申请
    SYSTEMS AND METHODS FOR IDENTIFYING SEQUENCE VARIATION ASSOCIATED WITH GENETIC DISEASES 审中-公开

    公开(公告)号：US20200027525A1

    公开(公告)日：2020-01-23

    申请号：US16434677

    申请日：2019-06-07

    Applicant: LIFE TECHNOLOGIES CORPORATION

    Inventor： Fiona HYLAND ,  Heinz BREU

    IPC: G16B20/00

    Abstract: Systems and method for identifying variants associated with a genetic disease can include obtaining calls for a plurality of individuals for a list of variant positions. The calls can be compared to identify variants that are found in affected individuals and absent in non-affected individuals. Such variants can include loss of heterozygosity, trans-phased compound heterozygotes, increased frequency mitochondrial variants, homozygous recessive variants, de novo variants, sex-linked variants, and combinations thereof.

    Computational Methods for Translating a Sequence of Multi-Base Color Calls to a Sequence of Bases
    3.
    发明申请
    Computational Methods for Translating a Sequence of Multi-Base Color Calls to a Sequence of Bases 审中-公开
    用于将多基色调序列翻译为基序列的计算方法

    公开(公告)号：US20160333401A1

    公开(公告)日：2016-11-17

    申请号：US15099685

    申请日：2016-04-15

    Applicant: LIFE TECHNOLOGIES CORPORATION

    Inventor： Heinz BREU ,  Danwei GUO

    IPC: C12Q1/68 ,  G06F19/22

    CPC classification number: C12Q1/6869 ,  G16B30/00 ,  C12Q2535/131 ,  C12Q2565/1025

    Abstract: Disclosed are systems and methods for resequencing using color calls. A DNA sample is encoded and sequenced according to a multi-base code producing a string of read color calls for a fragment of the sample. A reference sequence is obtained. The string of read color calls is mapped to the reference sequence. A base sequence is extracted from the reference sequence. The base sequence is encoded as a string of reference color codes according to the multi-base code. The string of read color calls is aligned with the string of reference color codes and mismatches in the alignment are detected. One or more mismatches of the string of read color calls are annotated as inconsistent. The one or more inconsistent mismatches of the string of read color calls are corrected. The string of corrected read color calls is decoded to bases producing a read sequence.

    Abstract translation: 公开了使用颜色调用重新测序的系统和方法。 DNA样本根据多基因码进行编码和测序，产生样本片段的一系列读取颜色调用。 得到参考序列。 读取颜色调用的字符串映射到参考序列。 从参考序列中提取碱基序列。 基本序列根据多基本码被编码为参考颜色码串。 读取颜色调用的字符串与参考颜色代码的字符串对齐，并且检测到对齐中的不匹配。 读取颜色调用字符串的一个或多个不匹配被注释为不一致。 读取颜色调用串的一个或多个不一致的不匹配被更正。 将经校正的读取颜色调用的字符串解码为产生读取序列的基准。

    SYSTEMS AND METHODS FOR IDENTIFYING SOMATIC MUTATIONS
    6.
    发明申请
    SYSTEMS AND METHODS FOR IDENTIFYING SOMATIC MUTATIONS 审中-公开
    用于识别SOMATIC MUTATIONS的系统和方法

    公开(公告)号：US20130268207A1

    公开(公告)日：2013-10-10

    申请号：US13790713

    申请日：2013-03-08

    Applicant: LIFE TECHNOLOGIES CORPORATION

    Inventor： Alexander JOYNER ,  Fiona HYLAND ,  Heinz BREU

    IPC: G06F19/22

    CPC classification number: G16B30/00

    Abstract: Systems and method for identifying somatic mutations can receive first ans second sequence information, determine if a variant present in the first sequencing information is also present in the second sequence information, and identify variants present in the first sequence information are somatic mutations when the variant is either not present in the second sequence information or the presence of the variant in the second sequence information is likely due to a sequencing error.

    Abstract translation: 用于鉴定体细胞突变的系统和方法可以接收第一和第二序列信息，确定第一序列信息中存在的变体是否也存在于第二序列信息中，并且鉴定第一序列信息中存在的变体是体细胞突变，当变体为 在第二序列信息中不存在或者存在第二序列信息中的变体可能是由于测序错误。

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