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公开(公告)号：US20230317207A1
公开(公告)日：2023-10-05
申请号：US18171494
申请日：2023-02-20
申请人： AFFYMETRIX, INC.
摘要： A system and method for region-based calling utilizes a probability distribution of a phi-transformed logarithmic ratio to determine a set of possible transition paths through markers and marker states, constructs a local evidence matrix for each of the markers and generates a total per-marker value for each segment in a discrete region.
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公开(公告)号：US20210265006A1
公开(公告)日：2021-08-26
申请号：US17262311
申请日：2019-07-23
申请人： AFFYMETRIX, INC.
发明人： Alan ROTER , Jeanette SCHMIDT , Longyang WU , Rama Rajaraja VARMA , Zheng CAI , Thao-Nhi LE , Srividya MOHAN , Kay AULL
摘要： Provided herein are methods and associated compositions, kits, systems, devices and instruments useful for genetic analysis where there is/are a sequence(s) similar to the gene of interest in a sample. In the methods, a combined copy number for related genes (e.g., a gene of interest and its pseudogene) can be determined via an assay. In addition, relative amounts of the related genes, i.e., a ratio of the related genes can be determined via the assay. Using the data of the combined copy number and the ratio of the related genes, the genotype of the gene of interest (as well as its pseudogene(s), if desired) can be determined with high accuracy.
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公开(公告)号：US20200294621A1
公开(公告)日：2020-09-17
申请号：US16755925
申请日：2018-10-17
申请人： AFFYMETRIX, INC.
摘要： A system and method for region-based calling utilizes a probability distribution of a phi-transformed logarithmic ratio to determine a set of possible transition paths through markers and marker states, constructs a local evidence matrix for each of the markers and generates a total per-marker value for each segment in a discrete region.
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