MALVA: Genotyping by Mapping-free ALlele Detection of Known VAriants
Sign Up to like & getrecommendations! Published in 2019 at "iScience"
DOI: 10.1016/j.isci.2019.07.011
Abstract: Summary The amount of genetic variation discovered in human populations is growing rapidly leading to challenging computational tasks, such as variant calling. Standard methods for addressing this problem include read mapping, a computationally expensive procedure;… read more here.
Keywords: allele detection; variants malva; genotyping mapping; mapping free ... See more keywords
Nebula: ultra-efficient mapping-free structural variant genotyper
Sign Up to like & getrecommendations! Published in 2021 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkab025
Abstract: Abstract Large scale catalogs of common genetic variants (including indels and structural variants) are being created using data from second and third generation whole-genome sequencing technologies. However, the genotyping of these variants in newly sequenced… read more here.
Keywords: ultra efficient; nebula ultra; structural variants; efficient mapping ... See more keywords