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1. 发明授权

US09268903B2 Systems and methods for sequence data alignment quality assessment 有权
标题翻译：序列数据对齐质量评估的系统和方法
公开(公告)号：US09268903B2
公开(公告)日：2016-02-23
申请号：US13177267
申请日：2011-07-06
申请人： Zheng Zhang , Sowmi Utiramerur , Fiona Hyland
发明人： Zheng Zhang , Sowmi Utiramerur , Fiona Hyland
IPC分类号： G06F19/22 , G06F15/00 , G06F19/24
CPC分类号： G06F19/24 , G06F19/22 , G06N3/126 , G06N7/005
摘要： A computer-implemented method for classifying alignments of paired nucleic acid sequence reads is disclosed. A plurality of paired nucleic acid sequence reads is received, wherein each read is comprised of a first tag and a second tag separated by an insert region. Potential alignments for the first and second tags of each read to a reference sequence is determined, wherein the potential alignments satisfies a minimum threshold mismatch constraint. Potential paired alignments of the first and second tags of each read are identified, wherein a distance between the first and second tags of each potential paired alignment is within an estimated insert size range. An alignment score is calculated for each potential paired alignment based on a distance between the first and second tags and a total number of mismatches for each tag.
摘要翻译：公开了用于分类配对核酸序列读数的计算机实现的方法。接收多个配对的核酸序列读取，其中每个读取包括由插入区域分隔的第一标签和第二标签。确定每个读取到参考序列的第一和第二标签的潜在对准，其中所述电位对准满足最小阈值失配约束。识别每个读取的第一和第二标签的潜在配对比对，其中每个潜在配对对准的第一和第二标签之间的距离在估计的插入尺寸范围内。基于第一和第二标签之间的距离和每个标签的总失配数，针对每个潜在配对对齐计算对准分数。

2. 发明申请

US20120203792A1 SYSTEMS AND METHODS FOR MAPPING SEQUENCE READS 审中-公开
标题翻译：用于绘制序列读数的系统和方法
公开(公告)号：US20120203792A1
公开(公告)日：2012-08-09
申请号：US13363717
申请日：2012-02-01
申请人： Zheng ZHANG , Fiona HYLAND , Sowmi UTIRAMERUR
发明人： Zheng ZHANG , Fiona HYLAND , Sowmi UTIRAMERUR
IPC分类号： G06F17/30
CPC分类号： G16B30/00
摘要： Systems, methods, and computer program products for aligning a fragment sequence to a target sequencing. The alignment is allowed at most one gap, such as an insertion or a deletion. In some embodiments, both a gapped alignment and an ungapped alignment can be produced. A selection can be made between the gapped alignment and the ungapped alignment based on a quality value for each alignment.
摘要翻译：用于将片段序列与靶序列对齐的系统，方法和计算机程序产品。允许对齐至多一个间隙，例如插入或删除。在一些实施例中，可以产生间隙对准和无间隙对准。基于每个对准的质量值，可以在间隙对准和无间隙对准之间进行选择。

3. 发明申请

US20120011086A1 SYSTEMS AND METHODS FOR SEQUENCE DATA ALIGNMENT QUALITY ASSESSMENT 有权
标题翻译：序列数据对齐质量评估的系统和方法
公开(公告)号：US20120011086A1
公开(公告)日：2012-01-12
申请号：US13177267
申请日：2011-07-06
申请人： Zheng ZHANG , Sowmi Utiramerur , Fiona Hyland
发明人： Zheng ZHANG , Sowmi Utiramerur , Fiona Hyland
IPC分类号： G06N3/02
CPC分类号： G06F19/24 , G06F19/22 , G06N3/126 , G06N7/005
摘要： A computer-implemented method for classifying alignments of paired nucleic acid sequence reads is disclosed. A plurality of paired nucleic acid sequence reads is received, wherein each read is comprised of a first tag and a second tag separated by an insert region. Potential alignments for the first and second tags of each read to a reference sequence is determined, wherein the potential alignments satisfies a minimum threshold mismatch constraint. Potential paired alignments of the first and second tags of each read are identified, wherein a distance between the first and second tags of each potential paired alignment is within an estimated insert size range. An alignment score is calculated for each potential paired alignment based on a distance between the first and second tags and a total number of mismatches for each tag.
摘要翻译：公开了用于分类配对核酸序列读数的计算机实现的方法。接收多个配对的核酸序列读取，其中每个读取包括由插入区域分隔的第一标签和第二标签。确定每个读取到参考序列的第一和第二标签的潜在对准，其中所述电位对准满足最小阈值失配约束。识别每个读取的第一和第二标签的潜在配对比对，其中每个潜在配对对准的第一和第二标签之间的距离在估计的插入尺寸范围内。基于第一和第二标签之间的距离和每个标签的总失配数，针对每个潜在配对对齐计算对准分数。

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