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US 2021/0265010 A1Published application
Genotyping diploid samples with coverage plot of unexplained reads
AssigneeSirona Genomics, Inc.
InventorsMing LI, Chunlin WANG
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Abstract
The present disclosure relates to a method for the computation of the coverage of unexplained reads in the assignment of alleles for genetic analysis.
Claims7
A method for computation of coverage of unexplained reads (CUR) comprising the steps of:
- a) obtaining sequence reads from a gene of interest;
- b) mapping the sequence reads to one or more reference allele sequences;
- c) partitioning all the mapped reads into two sets, wherein the first set contains all the reads that can be mapped to the selected reference sequence and the second set contains the rest of the reads;
- and
- d) computing the CUR at each position based on the second set of reads that cannot be mapped to selected alleles.
2 more elements
A method for determining a haplotype of an HLA locus, the method comprising:
- a) obtaining sequence reads from one or more HLA genes;
- b) mapping the sequence reads to one or more reference allele sequences;
- c) partitioning all the mapped reads into two sets, wherein the first set contains all the reads that can be mapped to the selected reference allele sequence and the second set contains the rest of the reads;
- d) computing the CUR at each position based on the second set of reads that cannot be mapped to selected alleles;
- and
- determining the haplotype of the HLA gene wherein the haplotype is the allele that results in the lowest CUR.
3 more elements
Dependencies are inferred from the claim text.