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.

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.

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.

公开(公告)号：US20160078094A1

公开(公告)日：2016-03-17

申请号：US14859653

申请日：2015-09-21

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Liviu Popescu ,  Fiona HYLAND

IPC: G06F17/30 ,  G06F19/24 ,  G06F19/28

CPC classification number: G06F16/24573 ,  G06F16/2455 ,  G06F16/248 ,  G16B40/00 ,  G16B50/00

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.

Abstract translation: 公开了用于注释生物分子相关数据的系统，方法，软件和计算机可用介质。 在某些示例性实施方案中，生物分子可以是核酸，并且数据可以是序列相关数据。 在各种实施例中，系统可以包括一个或多个公共或私人生物属性（例如，注释信息数据库，数据存储设备和系统等）源，一个或多个基因组特征数据源（例如，基因组变体工具，基因组变体数据库 ，基因组变体数据存储设备和系统等），托管注释模块和/或报告模块的计算设备（例如，工作站，服务器，个人计算机，移动设备等）和客户终端。