Systems and methods for use of known alleles in read mapping
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United States of America Patent
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Dec 15, 2020
Grant Date -
Jul 16, 2015
app pub date -
Jan 8, 2015
filing date -
Jan 10, 2014
priority date (Note) -
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Abstract
The invention generally relates to genomic studies and specifically to improved methods for read mapping using identified nucleotides at known locations. The invention provides methods of using identified nucleotides at known places in a genome to guide the analysis of sequence reads from that genome by excluding potential mappings or assemblies that are not congruent with the identified nucleotides. Information about a plurality of SNPs in the subject's genome is used to identify candidate paths through a genomic directed acyclic graph (DAG). Sequence reads are mapped to the candidate paths.
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