Results for "heterozygosity"
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...ate the overall characteristics of a genome, including genome size, heterozygosity rate, and repeat content from...4 simulated and 16 real datasets with a wide range in genome sizes, heterozygosity levels, and error rates. Avai...2356 days ago
PureCN: copy number calling and SNV classification using targeted short read sequencing
This package estimates tumor purity, copy number, and loss of heterozygosity (LOH), and classifies single nucleotide variants (SNVs) by somatic status and clonality. PureCN is designed fo...2106 days ago
- HM2 can process any diploid assemblies, but it is especially suitable for diploid assemblies with high heterozygosity (≥3%), which can be difficult for other tools. This pipeline also...
2057 days ago
Purge Haplotigs: Pipeline to help with curating heterozygous diploid genome assemblies
Some parts of a genome may have a very high degree of heterozygosity. This causes contigs for both haplotypes of that part of the genome to be assembled as separate primary contigs, rathe...1976 days ago
Smudgeplot: Inference of ploidy and heterozygosity structure using whole genome sequencing data
This tool extracts heterozygous kmer pairs from kmer count databases and performs gymnastics with them. We are able to disentangle genome structure by comparing the sum of...810 days ago
