Tools and Method for Haplotype phasing !
...ge contained in these results, however, is best exploited through phased haplotypes, which classify th...romosome. Since sequence and SNP array data normally take the form of unphased genotypes, one does not speci...1352 days ago
WhatsHap: fast and accurate read-based phasing
...sed Phasing of Related Individuals). WhatsHap is easy to install It is easy to use: Pass in a VCF and one or more BAM files, get out a phased VCF. Supports multi-sample VC...2182 days ago
Purge Haplotigs: Pipeline to help with curating heterozygous diploid genome assemblies
...issue for downstream analysis whether you're working on the haploid or phased-diploid assembly. Identify p...id assembly (i.e. Canu, FALCON or FALCON-Unzip primary contigs) or on a phased-diploid assembly (i.e. FALCON...1980 days ago
Phased Human Genome Assembly !
...sembler, maternal and paternal haplotypes were resolved over more than 80% of the genome. Maternal and paternal haplotype blocks were then further phased using Hi-C technology and the...2049 days ago
Phased Human Genome Assembly !
The new publicly available assembly (PacBio HG00733) has the fewest gaps of any human genome assembly, with more than half of the genome contained in gapless sequence at least 27 Mb long. The primary contig assembly is 2.89 Gb long and consists of 865 contigs that were assembled with PacBio ...Tags: Phased, Human, Genome, Assembly, NGS, PacBio
2049 days ago
HaploTypo: a variant-calling pipeline for phased genomes
An increasing number of phased (i.e. with resolved haplotypes) reference genomes are available. However, most genetic variant calling tools do not explicitly account for haplotype structure. Here, we present HaploTypo, a pipeline tailored to resolve haplotypes in genetic variation analyses. Haplo...Tags: HaploTypo, variant-calling, pipeline, phased, genomes
1612 days ago