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公开(公告)号：US10127346B2
公开(公告)日：2018-11-13
申请号：US13445923
申请日：2012-04-13
摘要： In an embodiment of the present invention, three novel human reference genome sequences were developed based on the most common population-specific DNA sequence (“major allele”). Methods were developed for their integration into interpretation pipelines for highthroughput whole genome sequencing.
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公开(公告)号：US20150370963A9
公开(公告)日：2015-12-24
申请号：US13445923
申请日：2012-04-13
摘要： In an embodiment of the present invention, three novel human reference genome sequences were developed based on the most common population-specific DNA sequence (“major allele”). Methods were developed for their integration into interpretation pipelines for highthroughput whole genome sequencing.
摘要翻译： 在本发明的一个实施方案中，基于最常见的群体特异性DNA序列（“主要等位基因”）开发了三种新的人参照基因组序列。 开发了将其整合到用于高通量全基因组测序的解释管道中的方法。
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公开(公告)号：US20130080365A1
公开(公告)日：2013-03-28
申请号：US13445926
申请日：2012-04-13
申请人： Frederick Dewey , Euan A. Ashley , Matthew Wheeler , Sergio Cordero , Colleen Caleshu , Kelly Ormond
发明人： Frederick Dewey , Euan A. Ashley , Matthew Wheeler , Sergio Cordero , Colleen Caleshu , Kelly Ormond
IPC分类号： G06N5/02
摘要： An embodiment of the present invention is a method for resolving long-range haplotype phase based on family pedigree data, inheritance state determination, and population linkage disequilibrium data. A method according to an embodiment of the present invention provides for the evaluation of genome wide risk using phased haplotype data.
摘要翻译： 本发明的一个实施方案是一种基于家族血统数据，遗传状态确定和群体连锁不平衡数据来解决长程单倍型相位的方法。 根据本发明的实施方案的方法提供使用分期单倍体数据评价基因组全面风险。
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公开(公告)号：US09443056B2
公开(公告)日：2016-09-13
申请号：US13445925
申请日：2012-04-13
申请人： Frederick Dewey , Euan A. Ashley , Jake Byrnes , Carlos Daniel Bustamante , Atul J. Butte , Rong Chen
发明人： Frederick Dewey , Euan A. Ashley , Jake Byrnes , Carlos Daniel Bustamante , Atul J. Butte , Rong Chen
摘要： An embodiment of the present invention is a methodology for prioritizing variants relevant to inherited Mendelian (“single gene”) disease syndromes according to disease phenotype, gene, and variant level information.
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公开(公告)号：US20130080068A1
公开(公告)日：2013-03-28
申请号：US13445925
申请日：2012-04-13
申请人： Frederick Dewey , Euan Ashley , Carlos Daniel Bustamante , Atul Butte , Jake Byrnes , Rong Chen
发明人： Frederick Dewey , Euan Ashley , Carlos Daniel Bustamante , Atul Butte , Jake Byrnes , Rong Chen
IPC分类号： G06F19/12
摘要： An embodiment of the present invention is a methodology for prioritizing variants relevant to inherited Mendelian (“single gene”) disease syndromes according to disease phenotype, gene, and variant level information.
摘要翻译： 本发明的一个实施方案是根据疾病表型，基因和变异水平信息来优先考虑与遗传的孟德尔（单基因）疾病综合征相关的变体的方法。
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公开(公告)号：US20130073217A1
公开(公告)日：2013-03-21
申请号：US13445923
申请日：2012-04-13
申请人： Frederick Dewey , Euan Ashley
发明人： Frederick Dewey , Euan Ashley
摘要： In an embodiment of the present invention, three novel human reference genome sequences were developed based on the most common population-specific DNA sequence (“major allele”). Methods were developed for their integration into interpretation pipelines for highthroughput whole genome sequencing.
摘要翻译： 在本发明的一个实施方案中，基于最常见的群体特异性DNA序列（主要等位基因）开发出三种新的人参照基因组序列。 开发了将其整合到用于高通量全基因组测序的解释管道中的方法。
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公开(公告)号：US20150370959A9
公开(公告)日：2015-12-24
申请号：US13445925
申请日：2012-04-13
申请人： Frederick Dewey , Euan Ashley , Carlos Daniel Bustamante , Atul Butte , Jake Byrnes , Rong Chen
发明人： Frederick Dewey , Euan Ashley , Carlos Daniel Bustamante , Atul Butte , Jake Byrnes , Rong Chen
IPC分类号： G06F19/12
摘要： An embodiment of the present invention is a methodology for prioritizing variants relevant to inherited Mendelian (“single gene”) disease syndromes according to disease phenotype, gene, and variant level information.
摘要翻译： 本发明的一个实施方案是根据疾病表型，基因和变异水平信息来优先考虑与遗传的孟德尔（“单基因”）疾病综合征有关的变体的方法。
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