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Allele calling and genotyping for repetitive polymorphic loci

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gbkc: genotyping by k-mer counts

Allele calling/genotyping approaches using k-mers for repetitive polymorphic loci.

Commands for calling alleles/genotypes:

Each approach outputs a list of alleles/genotypes and the probabilistic scores for each, where the largest score indiciates the called allele/genotype.

count

Generate k-mer count proifles for each known allele and compare to k-mer count profile from a set of sequencing reads with unknown genotype.

distance

Get outermost k-mer pairs for each read pair in a set of sequencing reads with unknown genotype and locate the k-mer pairs in known alleles. Using the expected average fragment length for the reads, determine similarity to distance between k-mer pairs in known alleles.

Additional useful commands:

check-profiles

Get information about k-mer count profiles for a list of known alleles. Print out the count profiles for each allele, determine which alleles share count profiles, or determine per-k-mer count differences between pairs of alleles.

get-genotypes

Get a list of all possible diploid genotypes given a list of known alleles.

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Allele calling and genotyping for repetitive polymorphic loci

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