Article
WhatsHap: Weighted Haplotype Assembly for Future-Generation Sequencing Reads.
Journal of computational biology : a journal of computational molecular cell biology - 1 Jun 2015
Patterson Murray, Marschall Tobias, Pisanti Nadia, van Iersel Leo, Stougie Leen, Klau Gunnar W, Schönhuth Alexander
Abstract excerpt
The human genome is diploid, which requires assigning heterozygous single nucleotide polymorphisms (SNPs) to the two copies of the genome. The resulting haplotypes, lists of SNPs belonging to each copy, are crucial for downstream analyses in population genetics. Currently, statistical approaches,...
Topics
- Diploidy
- Genetics, Population
- Genome, Human
- Haplotypes
- High-Throughput Nucleotide Sequencing
- Humans
- Polymorphism, Single Nucleotide
- Sequence Analysis, DNA
