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    BCOR REARRANGEMENTS AND USES THEREOF
    3.
    发明公开
    BCOR REARRANGEMENTS AND USES THEREOF 审中-公开

    公开(公告)号：US20230295734A1

    公开(公告)日：2023-09-21

    申请号：US17908847

    申请日：2021-03-03

    申请人： Foundation Medicine, Inc.

    发明人： Douglas I. LIN

    IPC分类号： C12Q1/6886 ,  C12Q1/6869

    CPC分类号： C12Q1/6886 ,  C12Q1/6869 ,  C12Q2600/106 ,  C12Q2600/156

    摘要： Provided herein are methods related to detecting rearrangements in the B-cell lymphoma 6 (BCL6) corepressor (BCOR) or BCL6 corepressor-like protein I (BCORL1) gene, as well as methods of treatment, uses, and kits related thereto. As demonstrated herein, detection of BCOR rearrangements can be used to identify individuals that may benefit from treatment with a targeted therapeutic, such as a CDK inhibitor, an MDM2 inhibitor, a tyrosine kinase inhibitor, a MEK inhibitor, an mTOR inhibitor, or a Hh inhibitor. In some embodiments, the BCOR rearrangement is a fusion gene between BCOR and L3MBTL2, EP300, NUTM2G, MAP7D2, RALGPS1 RGAG1, CREBBP, ING3, NUGGC, or KMT 2D.

    IN SILICO GENOMIC VARIANT IDENTIFICATION
    7.
    发明申请
    IN SILICO GENOMIC VARIANT IDENTIFICATION 有权

    公开(公告)号：US20230030656A1

    公开(公告)日：2023-02-02

    申请号：US17772451

    申请日：2019-10-29

    申请人： Foundation Medicine, Inc.

    发明人： Jason Darryl HUGHES

    IPC分类号： G16B20/20 ,  G16B45/00 ,  G06N3/12

    摘要： The present disclosure is directed to in silico techniques for identifying of genomic variants, and more specifically to iterative graph-based techniques for identifying genomic variants. An exemplary electronic device comprises one or more processors; a memory: and one or more programs, wherein the one or more programs are stored in the memory and configured to be executed by the one or more processors, the one or more programs including instructions for constructing a first graph representation of at least a portion of a reference sequence; constructing a second graph representation based on sequence reads associated with an individual and the first graph representation, identifying one or more candidate variants based on the second graph representation; and repeating the process by the one or more processors in accordance with a determination that termination conditions are not met.

    KMT2A-MAML2 FUSION MOLECULES AND USES THEREOF
    8.
    发明申请
    KMT2A-MAML2 FUSION MOLECULES AND USES THEREOF 有权

    公开(公告)号：US20220290253A1

    公开(公告)日：2022-09-15

    申请号：US17638740

    申请日：2020-08-31

    申请人： Foundation Medicine, Inc.

    发明人： Erik WILLIAMS

    IPC分类号： C12Q1/6886 ,  G01N33/574

    摘要： The present disclosure provides KMT2A-MAML2 fusion nucleic acid molecules, and KMT2A-MAML2 fusion polypeptides, as well as methods, kits and reagents for detecting such KMT2A-MAML2 fusion nucleic acid molecules and KMT2A-MAML2 fusion polypeptides. The disclosure also provides methods for evaluating, identifying, assessing, and/or treating an individual having a cancer, such an epithelial neoplasm or a thymoma.

    COMPUTER-IMPLEMENTED SYSTEM AND METHOD FOR IDENTIFYING SIMILAR PATIENTS
    10.
    发明申请
    COMPUTER-IMPLEMENTED SYSTEM AND METHOD FOR IDENTIFYING SIMILAR PATIENTS 审中-公开

    公开(公告)号：US20200020452A1

    公开(公告)日：2020-01-16

    申请号：US16579508

    申请日：2019-09-23

    申请人： FOUNDATION MEDICINE, INC.

    发明人： Gaurav Singal ,  Mary Patricia Lancelotta

    IPC分类号： G16H50/70 ,  G16H80/00 ,  G16H50/20 ,  G16H10/60 ,  G06F16/245 ,  G06F16/901

    摘要： A computer system includes a database of pathology information for a plurality of patients including at least one current patient; a memory; and a processor configured to identify the at least one second practitioner based on a similarity between the patient-specific pathology of the at least one current patient and the similar patient of the at least one second practitioner; display an indication to the first practitioner that the at least one second practitioner has been identified while keeping the identity of the at least one second practitioner and the similar patient confidential; present the first practitioner with a control to communicate with the at least one second practitioner; receive, from the at least one second practitioner, discrete responses to questions regarding the similar patient; and determine, based on the discrete responses, a recommendation of a treatment for the at least one current patient.