知搜-全球专利检索

  1. Login
  2. Sign Up

Search Results

36 records (took 0.018 seconds)

    Systems and Methods for Identifying Sequence Variation Associated with Genetic Diseases
    25.
    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。

    METHODS FOR DETECTING MUTATION LOAD FROM A TUMOR SAMPLE
    26.
    发明申请
    METHODS FOR DETECTING MUTATION LOAD FROM A TUMOR SAMPLE 有权

    公开(公告)号：US20250157578A1

    公开(公告)日：2025-05-15

    申请号：US19021672

    申请日：2025-01-15

    Applicant: Life Technologies Corporation

    Inventor： Ruchi Chaudhary ,  Fiona Hyland

    IPC: G16B20/20 ,  G16B20/00 ,  G16B20/40 ,  G16B30/00 ,  G16B30/10

    Abstract: A targeted panel with low sample input requirements from a tumor only sample may be processed to estimate mutation load in a tumor sample. The method may include detecting variants in nucleic acid sequence reads corresponding to targeted locations in the tumor sample genome; annotating detected variants with an annotation information from a population database; filtering the detected variants, wherein the filtering rule set retains the somatic variants and removes germ-line variants; counting the identified somatic variants to give a number of somatic variants; determining a number of bases in covered regions of the targeted locations in the tumor sample genome; and calculating a number of somatic variants per megabase, provides an estimate of the mutation load per megabase in the tumor sample genome.

    Methods for partner agnostic gene fusion detection
    27.
    发明授权
    Methods for partner agnostic gene fusion detection 有权

    公开(公告)号：US12139753B2

    公开(公告)日：2024-11-12

    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: C12Q1/68 ,  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.

    METHODS FOR CONTEXT BASED COMPRESSION OF GENOMIC DATA FOR IMMUNO-ONCOLOGY BIOMARKERS
    28.
    发明公开
    METHODS FOR CONTEXT BASED COMPRESSION OF GENOMIC DATA FOR IMMUNO-ONCOLOGY BIOMARKERS 审中-公开

    公开(公告)号：US20230282306A1

    公开(公告)日：2023-09-07

    申请号：US18170797

    申请日：2023-02-17

    Applicant: Life Technologies Corporation

    Inventor： Fiona Hyland ,  Asha Kamat ,  Timothy Looney

    IPC: G16B20/20 ,  G06F16/2457 ,  G06F16/248 ,  G06N3/126

    CPC classification number: G16B20/20 ,  G06F16/24575 ,  G06F16/248 ,  G06N3/126

    Abstract: The method includes compressing numbers of reads data for targeted genes of a gene expression assay performed on a test sample. The targeted genes are organized into categories. Each category represents a functional context associated with the targeted genes in that category. The numbers of reads corresponding to targeted genes each category is compressed to form a compressed value for the category. The compressed value is compared to a baseline value for the category to determine an enrichment or a loss of a signature corresponding to the functional context of the category. The method may include analyzing information from multiple assays performed on the test sample, assigning a score value to each assay result and predicting a response to immune-oncology treatment based on the assigned scores.

    Systems and Methods for Annotating Biomolecule Data
    29.
    发明申请
    Systems and Methods for Annotating Biomolecule Data 有权

    公开(公告)号：US20210173842A1

    公开(公告)日：2021-06-10

    申请号：US17124846

    申请日：2020-12-17

    Applicant: Life Technologies Corporation

    Inventor： Liviu Popescu ,  Fiona Hyland

    IPC: G06F16/2457 ,  G06F16/2455 ,  G06F16/248 ,  G16B50/00 ,  G16B40/00

    Abstract: Systems, methods, software and computer-usable media for annotating biomolecule-related data are disclosed. In certain exemplified embodiments, the biomolecules can be nucleic acids and the data can be sequence-related data. In various embodiments, systems can include one or more public or private biological attributes (e.g., annotation information databases, data storage devices and systems, etc.) sources, one or more genomic features data sources (e.g., genomic variant tools, genomic variant databases, genomic variant data storage devices and systems, etc.), a computing device (e.g., workstation, server, personal computer, mobile device, etc.) hosting an annotations module and/or a reporting module, and a client terminal.

    Systems and methods for validation of sequencing results
    30.
    发明授权
    Systems and methods for validation of sequencing results 有权

    公开(公告)号：US11021734B2

    公开(公告)日：2021-06-01

    申请号：US15952463

    申请日：2018-04-13

    Applicant: LIFE TECHNOLOGIES CORPORATION

    Inventor： Dumitru Brinza ,  Fiona Hyland

    IPC: C12Q1/6869 ,  C12Q1/6858 ,  C12Q1/6806 ,  G16B30/00

    Abstract: Systems and method for validation of sequencing results can amplify a target region of a nucleic acid sample in the presence of a primer pool including target specific and variant specific primers. The variant specific primers can include variant specific barcodes and variant specific sequences. An amplicon can be sequenced to determine the sequence of the variant specific barcode. The variant can be identified based on the sequence of the variant specific barcode, and the location of the variant can be determined by mapping the amplicon to a reference sequence.

Patent Agency Ranking