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公开(公告)号：US20200051663A1
公开(公告)日：2020-02-13
申请号：US16279315
申请日：2019-02-19
Applicant: LIFE TECHNOLOGIES CORPORATION
Inventor： Zheng ZHANG , Danwei GUO , Yuandan LOU , Asim SIDDIQUI , Dumitru BRINZA
IPC: G16B30/00
Abstract: Nucleic acid sequence mapping/assembly methods are disclosed. The methods initially map only a contiguous portion of each read to a reference sequence and then extends the mapping of the read at both ends of the mapped contiguous portion until the entire read is mapped (aligned). In various embodiments, a mapping score can be calculated for the read alignment using a scoring function, score (i, j)=M+mx, where M can be the number of matches in the extended alignment, x can be the number of mismatches in the alignment, and m can be a negative penalty for each mismatch. The mapping score can be utilized to rank or choose the best alignment for each read.
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公开(公告)号：US20190172549A1
公开(公告)日：2019-06-06
申请号：US16211609
申请日：2018-12-06
Applicant: LIFE TECHNOLOGIES CORPORATION
Inventor： Brijesh KRISHNASWAMI , Yuandan LOU , Asim SIDDIQUI , Heinz BREU , Amitabh SHUKLA , Karl KUHLMANN
IPC: G16B20/00 , G06F16/9038 , G16B50/00
Abstract: Systems and method for annotating variants within a genome can call variants from reads or receive called variants directly and associate the called variants with functional annotations and interpretive annotations. A summary report of the called variants, the associated functional annotations, and the associated interpretive annotations can be generated.
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3.发明申请SYSTEMS AND METHODS FOR ANALYSIS AND INTERPRETATION OF NUCLEIC ACID SEQUENCE DATA 审中-公开用于核酸序列数据分析和解释的系统和方法公开(公告)号：US20130091126A1
公开(公告)日：2013-04-11
申请号：US13648998
申请日：2012-10-10
Applicant: LIFE TECHNOLOGIES CORPORATION
Inventor： Brijesh KRISHNASWAMI , Srikanth JANDHYALA , Yuandan LOU , Asim SIDDIQUI , Mrunal AGATE , Ameet DHAPULKAR , Heinz BREU , Amitabh SHUKLA , Karl KUHLMANN , Fiona HYLAND , Gulsah ALTUN , Daryl THOMAS
IPC: G06F17/30
CPC classification number: G16B20/00 , G06F16/9038 , G16B50/00
Abstract: Systems and method for annotating variants within a genome can call variants from reads or receive called variants directly and associate the called variants with functional annotations and interpretive annotations. A summary report of the called variants, the associated functional annotations, and the associated interpretive annotations can be generated.
Abstract translation: 用于在基因组内注释变体的系统和方法可以直接从读取或接收所调用的变体调用变体，并将被叫变体与功能注释和解释性注释相关联。 可以生成所调用的变体，关联的功能注释和相关联的解释性注释的总结报告。
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4.发明申请Systems and Methods for Analysis and Interpretation of Nucleic Acid Sequence Data 审中-公开用于核酸序列数据分析和解释的系统和方法公开(公告)号：US20160026753A1
公开(公告)日：2016-01-28
申请号：US14749257
申请日：2015-06-24
Applicant: LIFE TECHNOLOGIES CORPORATION
Inventor： Brijesh Krishnaswami , Srikanth JANDHYALA , Yuandan LOU , Asim SIDDIQUI , Mrunal AGATE , Ameet DHAPULKAR , Heinz BREU , Amitabh SHUKLA , Karl KUHLMANN , Fiona HYLAND , Gulsah ALTUN , Daryl THOMAS
CPC classification number: G16B20/00 , G06F16/9038 , G16B50/00
Abstract: Systems and method for annotating variants within a genome can call variants from reads or receive called variants directly and associate the called variants with functional annotations and interpretive annotations. A summary report of the called variants, the associated functional annotations, and the associated interpretive annotations can be generated.
Abstract translation: 用于在基因组内注释变体的系统和方法可以直接从读取或接收所调用的变体调用变体，并将被叫变体与功能注释和解释性注释相关联。 可以生成所调用的变体，关联的功能注释和相关联的解释性注释的总结报告。
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