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    Systems and Methods for Identifying Sequence Variation Associated with Genetic Diseases
    3.
    发明申请
    Systems and Methods for Identifying Sequence Variation Associated with Genetic Diseases 审中-公开
    识别与遗传病相关的序列变异的系统和方法

    公开(公告)号：US20140080718A1

    公开(公告)日：2014-03-20

    申请号：US14024878

    申请日：2013-09-12

    Applicant: Life Technologies Corporation

    Inventor： Fiona Hyland ,  Heinz Breu

    IPC: G06F19/18

    CPC classification number: 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.

    Abstract translation: 用于鉴定与遗传疾病相关的变体的系统和方法可以包括获得针对变体位置的列表的多个个体的呼叫。 可以将呼叫进行比较，以确定在受影响的个体中发现的变体，并且在不受影响的个体中不存在。 这样的变体可以包括杂合性的丧失，反式复合杂合子，增加的频率线粒体变体，纯合隐性变体，从头变体，性别连锁的变体及其组合。

    Systems and methods for identifying somatic mutations
    5.
    发明授权
    Systems and methods for identifying somatic mutations 有权

    公开(公告)号：US11468968B2

    公开(公告)日：2022-10-11

    申请号：US16434709

    申请日：2019-06-07

    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 EXON JUNCTIONS FROM SINGLE READS
    7.
    发明申请
    SYSTEMS AND METHODS FOR IDENTIFYING EXON JUNCTIONS FROM SINGLE READS 有权

    公开(公告)号：US20220284986A1

    公开(公告)日：2022-09-08

    申请号：US17699439

    申请日：2022-03-21

    Applicant: Life Technologies Corporation

    Inventor： Paolo Vatta ,  Onur Sakarya ,  Heinz Breu ,  Liviu Popescu ,  Asim Siddiqui ,  Fiona Hyland

    IPC: G16B30/10 ,  G16B30/00

    Abstract: Identification of exon junctions includes obtaining a first read sequence based on a detected plurality of signals of a first sequence. A list of exon prefix and suffix sequences are generated by identifying exons of the human genome with a prefix sequence mapping to a suffix sequence of the first read sequence and by identifying exons with a suffix sequence mapping to a prefix sequence of the first read sequence. A pair of exon sequences is selected, with a first exon sequence being one of the exon suffix sequences and a second exon sequence being one of the exon prefix sequences. Summing a number of sequence elements of the first exon sequence that overlap the prefix of the first read sequence, a number of sequence elements of the second exon sequence that overlap the suffix of the first read sequence, and a constant is used to identify a fusion junction.

    SYSTEMS AND METHODS FOR IDENTIFYING SOMATIC MUTATIONS
    8.
    发明申请
    SYSTEMS AND METHODS FOR IDENTIFYING SOMATIC MUTATIONS 审中-公开

    公开(公告)号：US20170132359A1

    公开(公告)日：2017-05-11

    申请号：US15295114

    申请日：2016-10-17

    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 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.

    COMPUTATIONAL METHODS FOR TRANSLATING A SEQUENCE OF MULTI-BASE COLOR CALLS TO A SEQUENCE OF BASES
    9.
    发明申请
    COMPUTATIONAL METHODS FOR TRANSLATING A SEQUENCE OF MULTI-BASE COLOR CALLS TO A SEQUENCE OF BASES 审中-公开

    公开(公告)号：US20190276885A1

    公开(公告)日：2019-09-12

    申请号：US16287042

    申请日：2019-02-27

    Applicant: LIFE TECHNOLOGIES CORPORATION

    Inventor： Heinz Breu ,  Danwei Guo

    IPC: C12Q1/6869 ,  G16B30/00

    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.

    Systems and Methods for Identifying Exon Junctions from Single Reads
    10.
    发明申请
    Systems and Methods for Identifying Exon Junctions from Single Reads 审中-公开

    公开(公告)号：US20180276338A1

    公开(公告)日：2018-09-27

    申请号：US15928202

    申请日：2018-03-22

    Applicant: LIFE TECHNOLOGIES CORPORATION

    Inventor： Paolo Vatta ,  Onur Sakarya ,  Heinz Breu ,  Liviu Popescu ,  Asim Siddiqui ,  Fiona Hyland

    IPC: G06F19/22

    CPC classification number: G16B30/00

    Abstract: Systems and methods are used to identify an exon junction from a single read of a transcript. A transcript sample is interrogated and a read sequence is produced using a nucleic acid sequencer. A first exon sequence and a second exon sequence are obtained using the processor. The first exon sequence is mapped to a prefix of the read sequence using the processor. The second exon sequence is mapped to a suffix of the read sequence using the processor. A sum of a number of sequence elements of the first exon sequence that overlap the prefix of the read sequence, of a number of sequence elements of the second exon sequence that overlap the suffix of the read sequence, and of a constant is calculated using the processor. If the sum equals a length of the read sequence, a junction is identified in the read using the processor.

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