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
2033 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
1596 days ago
Supernova: generates phased, whole-genome de novo assemblies from a Chromium-prepared library.
Supernova generates phased, whole-genome de novo assemblies from a Chromium-prepared library. Please see Achieving Success with De Novo Assembly and System Requirements before creating your Chromium libraries for assembly. Supernova should be run using 38-56x ...Tags: Supernova, phased, whole-genome, de novo, assembly, Chromium-prepared, library
1432 days ago