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1. 发明申请

WO2021024074A1 CLUSTERING OF MATCHED SEGMENTS TO DETERMINE LINKAGE OF DATASET IN A DATABASE 审中-公开
公开(公告)号：WO2021024074A1
公开(公告)日：2021-02-11
申请号：PCT/IB2020/056937
申请日：2020-07-23
申请人： ANCESTRY.COM DNA, LLC
发明人： NGUYEN, Thi Hong Luong , PEI, Jingwen , GUTURU, Harendra , NOTO, Keith D.
IPC分类号： G16B50/00 , G16B10/00
摘要： A computer-implemented method for linking individuals' datasets in a database may include receiving a target individual dataset of a target individual and a plurality of additional individual datasets. A computing server may generate a plurality of sub-cluster pairs of first parental groups and second parental groups. At least one of sub-cluster pairs includes a first parental group of matched segments and a second parental group of matched segments. A computing server may link the first parental groups and the second parental groups across the plurality of sub-cluster pairs to generate at least one super-cluster of a parental side. A computing server may assign metadata to one or more additional individual datasets of the plurality of additional individual datasets. The metadata may specify that the one or more additional individual datasets are connected to the target individual dataset by the parental side of the super-cluster.

2. 发明申请

WO2014039875A1 USING HAPLOTYPES TO INFER ANCESTRAL ORIGINS FOR RECENTLY ADMIXED INDIVIDUALS 审中-公开
标题翻译：用最近的个体感染哺乳动物的原因
公开(公告)号：WO2014039875A1
公开(公告)日：2014-03-13
申请号：PCT/US2013/058588
申请日：2013-09-06
申请人： ANCESTRY.COM DNA, LLC
发明人： NOTO, Keith D. , BYRNES, Jake K. , BALL, Catherine A. , CHAHINE, Kenneth G.
IPC分类号： G06F19/00
CPC分类号： G06F19/12 , G06F19/18
摘要： Phased haplotype features are used to infer an individual's ancestry. Reference genomic data is obtained for individuals of known ancestral origin. Haplotype features are identified based on consecutive SNPs from each individual. Sample genomic data is obtained for an individual of unknown ancestral origin. The data is phased and divided into features analogous to the features in the reference data. An admixture estimator then performs an admixture estimation based on the observed feature values in the sample data and the reference data. The estimation indicates a contribution of each of the known populations to the genome of the sample individual.
摘要翻译：分阶段单倍型特征用于推断个体的祖先。对于已知祖先来源的个体获得参考基因组数据。基于来自每个个体的连续SNP鉴定单倍型特征。对于未知祖先来源的个体获得样品基因组数据。数据被分阶段分为与参考数据中的特征相似的特征。然后，混合物估计器基于样本数据和参考数据中观察到的特征值执行混合估计。估计表明每个已知群体对样本个体的基因组的贡献。

3. 发明申请

WO2017009788A1 LOCAL GENETIC ETHNICITY DETERMINATION SYSTEM 审中-公开
标题翻译：本地遗传确定系统
公开(公告)号：WO2017009788A1
公开(公告)日：2017-01-19
申请号：PCT/IB2016/054180
申请日：2016-07-13
申请人： ANCESTRY.COM DNA, LLC
发明人： NOTO, Keith D. , WANG, Yong
IPC分类号： G06F19/10
CPC分类号： G06N7/005 , G06F19/14 , G06F19/24
摘要： An input sample SNP genotype is divided into a plurality of windows, each including a sequence of SNPs. For each window, a diploid hidden Markov Model (HMM) is built and from a haplotype Markov Model (MM). The diploid HMM for a window is used to determine the probability that the window corresponds to a pair of labels (e.g., ethnicity labels). An inter-window HMM, with a set of states for each window, is built based on the diploid HMMs for each window. Labels are assigned to the input sample genotype based on the inter-window HMM.
摘要翻译：输入样本SNP基因型被分为多个窗口，每个窗口包括一系列SNP。对于每个窗口，构建二倍体隐马尔科夫模型（HMM），并从单倍型马尔可夫模型（MM）建立。用于窗口的二倍体HMM用于确定窗口对应于一对标签（例如，种族标签）的概率。基于每个窗口的二倍体HMM，构建了具有每个窗口的一组状态的窗口间HMM。基于窗口间HMM，将标签分配给输入样本基因型。

4. 发明申请

WO2017006284A1 GENETIC AND GENEALOGICAL ANALYSIS FOR IDENTIFICATION OF BIRTH LOCATION AND SURNAME INFORMATION 审中-公开
标题翻译：遗传和遗传学分析用于鉴定出生地点和姓氏信息
公开(公告)号：WO2017006284A1
公开(公告)日：2017-01-12
申请号：PCT/IB2016/054094
申请日：2016-07-07
申请人： ANCESTRY.COM DNA, LLC
发明人： KERMANY, Amir R. , GRANKA, Julie M. , NOTO, Keith D.
IPC分类号： G06F19/14 , G06F19/24
CPC分类号： G06F19/28 , G06F19/14 , G06F19/22 , G06F19/24
摘要： A system identifies ancestral birth locations or surnames estimated to be associated with an individual's ancestors using an individual's genetic sample. The system identifies users who are genetic matches to the individual and determines whether and how often a birth location or surname appears in the pedigrees of those users. Birth locations or surnames that appear frequently throughout the pedigrees of genetically matching users may represent birth locations or surnames that are affiliated with the individual's ancestors. The system determines whether the frequency of appearance of a birth location or surname is statistically significant to eliminate biases for certain birth locations or surnames that appear more frequently than others. The birth location or surname may be provided to the individual based on an also-determined enrichment score.
摘要翻译：系统确定使用个人遗传样本估计与个体祖先相关联的祖先出生地点或姓氏。系统识别与个人进行遗传匹配的用户，并确定出生地点或姓氏在这些用户的血统中出现的频率以及频率。在遗传匹配用户的整个谱系中频繁出现的出生地点或姓氏可能代表与个人祖先有联系的出生地点或姓氏。系统确定出生地点或姓氏的出现频率是否具有统计意义，以消除出现比其他出生地点或姓氏更频繁的某些出生地点或姓氏的偏差。可以根据确定的浓缩分数向个人提供出生地点或姓氏。

5. 发明公开

EP3621080A1 REDUCING ERROR IN PREDICTED GENETIC RELATIONSHIPS 有权
公开(公告)号：EP3621080A1
公开(公告)日：2020-03-11
申请号：EP19202815.7
申请日：2015-10-14
申请人： Ancestry.com DNA, LLC
发明人： BARBER, Mathew J. , WANG, Yong , NOTO, Keith D. , CHAHINE, Kenneth G. , BALL, Catherine Ann
IPC分类号： G16B10/00 , G16B20/40 , C12Q1/6881
摘要： System, computer program products, and methods are disclosed for estimating a degree of ancestral relatedness between two individuals. The haplotype data for a population of individuals is divided into segment windows based on genetic markers, and matched segments for the haplotype data are generated. Each matched segment having a first cM width that exceeds a threshold cM width is included in counting the matched segments in each segment window. A weight associated with each segment window is estimated based on the count of matched segments in the associated segment window. A weighted sum of per-window cM widths for each matched segment is calculated based on the first cM width and the weights associated with the segment windows of the matched segment. The weighted sum of per-windows cM widths are used to estimate a degree of ancestral relatedness between two individuals.

6. 发明公开

EP3320469A1 GENETIC AND GENEALOGICAL ANALYSIS FOR IDENTIFICATION OF BIRTH LOCATION AND SURNAME INFORMATION 审中-公开
标题翻译：遗传分析与遗传分析鉴定出生地点和流行信息
公开(公告)号：EP3320469A1
公开(公告)日：2018-05-16
申请号：EP16820936.9
申请日：2016-07-07
申请人： Ancestry.com DNA, LLC
发明人： KERMANY, Amir R. , GRANKA, Julie M. , NOTO, Keith D.
IPC分类号： G06F19/14 , G06F19/24
CPC分类号： G06F19/28 , G06F19/14 , G06F19/22 , G06F19/24
摘要： A system identifies ancestral birth locations or surnames estimated to be associated with an individual's ancestors using an individual's genetic sample. The system identifies users who are genetic matches to the individual and determines whether and how often a birth location or surname appears in the pedigrees of those users. Birth locations or surnames that appear frequently throughout the pedigrees of genetically matching users may represent birth locations or surnames that are affiliated with the individual's ancestors. The system determines whether the frequency of appearance of a birth location or surname is statistically significant to eliminate biases for certain birth locations or surnames that appear more frequently than others. The birth location or surname may be provided to the individual based on an also-determined enrichment score.

7. 发明公开

EP2893478A1 USING HAPLOTYPES TO INFER ANCESTRAL ORIGINS FOR RECENTLY ADMIXED INDIVIDUALS 审中-公开
标题翻译：单倍型的使用导致最新混合族源
公开(公告)号：EP2893478A1
公开(公告)日：2015-07-15
申请号：EP13834692.9
申请日：2013-09-06
申请人： Ancestry.com DNA LLC
发明人： NOTO, Keith D. , BYRNES, Jake K. , BALL, Catherine A. , CHAHINE, Kenneth G.
IPC分类号： G06F19/00
CPC分类号： G06F19/12 , G06F19/18
摘要： Phased haplotype features are used to infer an individual's ancestry. Reference genomic data is obtained for individuals of known ancestral origin. Haplotype features are identified based on consecutive SNPs from each individual. Sample genomic data is obtained for an individual of unknown ancestral origin. The data is phased and divided into features analogous to the features in the reference data. An admixture estimator then performs an admixture estimation based on the observed feature values in the sample data and the reference data. The estimation indicates a contribution of each of the known populations to the genome of the sample individual.

8. 发明公开

EP3207483A1 ANCESTRAL HUMAN GENOMES 有权
标题翻译：起源人类基因组
公开(公告)号：EP3207483A1
公开(公告)日：2017-08-23
申请号：EP15851471.1
申请日：2015-10-19
申请人： Ancestry.com DNA, LLC
发明人： GRANKA, Julie M. , NOTO, Keith D.
IPC分类号： G06F19/24 , G06F19/20
CPC分类号： G06F19/18 , G06F17/18 , G06F19/12 , G06F19/24
摘要： Novel haplotype cluster Markov models are used to phase genomic samples. After the models are built, they rapidly and accurately phase new samples without requiring that the new samples be used to re-build the models. The models set transition probabilities such that the probability for an appearance of any allele within any haplotype is a non-zero number. Furthermore, the most unlikely pairs of haplotypes are discarded from each model at each level until c of the likelihood mass at each level is discarded. The models are also constructed such that contributing windows of SNPs partially overlap so that phasing decisions near one of the extreme ends of any model is are not significantly determinative of the phase. Additionally, the models are configured such that two or more nodes can be merged during the building/updating procedure to consolidate haplotype clusters having similar distributions.
摘要翻译：描述了计算方法来重建祖先的遗传数据，IBD信息和一些其后代的全部或部分谱系信息的祖先染色体（和基因组）。

9. 发明公开

EP4008007A1 CLUSTERING OF MATCHED SEGMENTS TO DETERMINE LINKAGE OF DATASET IN A DATABASE 有权
公开(公告)号：EP4008007A1
公开(公告)日：2022-06-08
申请号：EP20849090.4
申请日：2020-07-23
申请人： Ancestry.com DNA, LLC
发明人： NGUYEN, Thi Hong Luong , PEI, Jingwen , GUTURU, Harendra , NOTO, Keith D.
IPC分类号： G16B50/00 , G16B10/00

10. 发明公开

EP3323067A1 LOCAL GENETIC ETHNICITY DETERMINATION SYSTEM 有权
公开(公告)号：EP3323067A1
公开(公告)日：2018-05-23
申请号：EP16823964.8
申请日：2016-07-13
申请人： Ancestry.com DNA, LLC
发明人： NOTO, Keith D. , WANG, Yong
IPC分类号： G06F19/10
CPC分类号： G06N7/005 , G06F19/14 , G06F19/24
摘要： An input sample SNP genotype is divided into a plurality of windows, each including a sequence of SNPs. For each window, a diploid hidden Markov Model (HMM) is built and from a haplotype Markov Model (MM). The diploid HMM for a window is used to determine the probability that the window corresponds to a pair of labels (e.g., ethnicity labels). An inter-window HMM, with a set of states for each window, is built based on the diploid HMMs for each window. Labels are assigned to the input sample genotype based on the inter-window HMM.

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