公开(公告)号：WO2015149034A3

公开(公告)日：2015-10-01

申请号：PCT/US2015/023197

申请日：2015-03-27

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： RHODES, Daniel ,  SADIS, Seth ,  WYNGAARD, Peter ,  KHAZANOV, Nikolay ,  BANDLA, Santhoshi ,  TOMILO, Mark ,  EDDY, Sean ,  BOWDEN, Emma ,  LI, Jia

IPC: C12Q1/68

Abstract: The disclosure provides gene fusions, gene variants, and novel associations with disease states, as well as kits, probes, and methods of using the same.

公开(公告)号：WO2014165710A2

公开(公告)日：2014-10-09

申请号：PCT/US2014/032888

申请日：2014-04-03

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： RHODES, Daniel ,  SADIS, Seth ,  WYNGAARD, Peter ,  BANKHEAD, Armand ,  CYANAM, Dinesh ,  KHAZANOV, Nikolay

IPC: C12Q1/68

CPC classification number: C12Q1/6886 ,  C12Q2600/156

Abstract: The disclosure provides gene fusion variants and novel associations with disease states, as well as kits, probes, and methods of using the same.

Abstract translation: 本公开提供了基因融合变体和与疾病状态的新型关联，以及试剂盒，探针及其使用方法。

公开(公告)号：WO2014151955A1

公开(公告)日：2014-09-25

申请号：PCT/US2014/026724

申请日：2014-03-13

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： SADIS, Seth ,  WILLIAMS, Paul, Douglas

IPC: C12Q1/68

CPC classification number: C12Q1/686 ,  C12Q1/6886 ,  C12Q2600/118 ,  C12Q2600/156

Abstract: Prognosis methods for predicting clinical outcome for a human subject diagnosed with squamous cell lung carcinoma using a panel of molecular markers that includes CDKN2A and CCND1. CDKN2A / p16 deletion or loss of function mutation and CCND1 amplification are related to the subject's increased likelihood of a negative clinical outcome.

Abstract translation: 使用包括CDKN2A和CCND1的分子标记的一组来预测诊断为鳞状细胞肺癌的人类受试者的临床结果的预后方法。 CDKN2A / p16缺失或缺失功能突变和CCND1扩增与受试者增加阴性临床结局的可能性有关。

公开(公告)号：WO2014172046A9

公开(公告)日：2014-10-23

申请号：PCT/US2014/029592

申请日：2014-03-14

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： RHODES, Daniel ,  SADIS, Seth ,  WYNGAARD, Peter ,  KHAZANOV, Nikolay ,  BANDLA, Santhoshi ,  TOMILO, Mark ,  EDDY, Sean ,  BOWDEN, Emma

IPC: C12Q1/68 ,  G06F19/20

Abstract: The disclosure provides gene fusions, gene variants, and novel associations with disease states, as well as kits, probes, and methods of using the same.

Abstract translation: 本披露提供了基因融合体，基因变体和与疾病状态的新型关联，以及使用它们的试剂盒，探针和方法。

公开(公告)号：WO2014144121A2

公开(公告)日：2014-09-18

申请号：PCT/US2014/028404

申请日：2014-03-14

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： BANDLA, Santhoshi ,  ROSS, Douglas ,  SADIS, Seth ,  WYNGAARD, Peter

IPC: C12Q1/68

CPC classification number: C12Q1/6886 ,  C12Q2600/106 ,  C12Q2600/156

Abstract: The disclosure provides compositions, kits, and methods for detecting a plurality of genes and associated variants in a sample from a subject with lung cancer. The compositions, kits, and methods include a set of oligonucleotides, typically primers and/or probes that can hybridize to identify a gene variant. The methods disclosed herein provide for a mutation status of a tumor to be determined and subsequently associated with an actionable treatment recommendation.

Abstract translation: 本公开提供了用于检测来自肺癌受试者的样品中的多个基因和相关变体的组合物，试剂盒和方法。 组合物，试剂盒和方法包括一组寡核苷酸，通常可以杂交以鉴定基因变体的引物和/或探针。 本文公开的方法提供待确定的肿瘤的突变状态并随后与可行动的治疗推荐相关联。

公开(公告)号：WO2020198004A1

公开(公告)日：2020-10-01

申请号：PCT/US2020/023850

申请日：2020-03-20

Applicant: LIFE TECHNOLOGIES CORPORATION ,  VEITCH, James

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

IPC: G16B20/30 ,  G16B30/00 ,  G16B20/00

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：WO2015038190A1

公开(公告)日：2015-03-19

申请号：PCT/US2014/028291

申请日：2014-03-14

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： RHODES, Daniel ,  SADIS, Seth

IPC: C12Q1/68

CPC classification number: C12Q1/6886 ,  C12Q2600/106 ,  C12Q2600/118 ,  C12Q2600/158

Abstract: The disclosure provides compositions, kits, and methods for detecting a plurality of genes and associated variants in a sample from a subject with cancer. The compositions, kits, and methods include a set of oligonucleotides, typically primers and/or probes that can hybridize to identify a gene variant. The methods disclosed herein provide for a mutation status of a tumor to be determined and subsequently associated with a report comprising an actionable treatment recommendation.

Abstract translation: 本公开提供了用于检测来自患有癌症的受试者的样品中的多个基因和相关变体的组合物，试剂盒和方法。 组合物，试剂盒和方法包括一组寡核苷酸，通常可以杂交以鉴定基因变体的引物和/或探针。 本文公开的方法提供待确定的肿瘤的突变状态，并随后与包含可行动治疗推荐的报告相关联。

公开(公告)号：EP2986736A2

公开(公告)日：2016-02-24

申请号：EP14721666.7

申请日：2014-03-14

Applicant: Life Technologies Corporation

Inventor： RHODES, Daniel ,  SADIS, Seth ,  WYNGAARD, Peter ,  KHAZANOV, Nikolay ,  BANDLA, Santhoshi ,  TOMILO, Mark ,  EDDY, Sean ,  BOWDEN, Emma

IPC: C12Q1/68 ,  G06F19/20

Abstract: The disclosure provides gene fusions, gene variants, and novel associations with disease states, as well as kits, probes, and methods of using the same.

Abstract translation: 本公开提供了基因融合，基因变体和与疾病状态的新型关联，以及试剂盒，探针及其使用方法。

公开(公告)号：EP3942557A1

公开(公告)日：2022-01-26

申请号：EP20719029.9

申请日：2020-03-20

Applicant: Life Technologies Corporation

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

IPC: G16B20/30 ,  G16B30/00 ,  G16B20/00

公开(公告)号：EP2971092A1

公开(公告)日：2016-01-20

申请号：EP14717342.1

申请日：2014-03-13

Applicant: Life Technologies Corporation

Inventor： SADIS, Seth ,  WILLIAMS, Paul, Douglas

IPC: C12Q1/68

Abstract: Methods for predicting clinical outcome for a human subject diagnosed with squamous cell lung carcinoma using a panel of molecular markers that includes CDKN2A and CCND1. The markers are related to the subject's increased likelihood of a negative clinical outcome.