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MALVA: Genotyping by Mapping-free ALlele Detection of Known VAriants

Denti, Luca
•
Previtali, Marco
•
Bernardini, Giulia
altro
Bonizzoni, Paola
2019
  • journal article

Periodico
ISCIENCE
Abstract
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; thus, mapping-free tools have been proposed in recent years. These tools focus on isolated, biallelic SNPs, providing limited support for multi-allelic SNPs and short insertions and deletions of nucleotides (indels). Here we introduce MALVA, a mapping-free method to genotype an individual from a sample of reads. MALVA is the first mapping-free tool able to genotype multi-allelic SNPs and indels, even in high-density genomic regions, and to effectively handle a huge number of variants. MALVA requires one order of magnitude less time to genotype a donor than alignment-based pipelines, providing similar accuracy. Remarkably, on indels, MALVA provides even better results than the most widely adopted variant discovery tools. Biological Sciences; Genetics; Genomics; Bioinformatics
DOI
10.1016/j.isci.2019.07.011
WOS
WOS:000484353100003
Archivio
http://hdl.handle.net/11368/3019795
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85069645588
https://www.sciencedirect.com/science/article/pii/S2589004219302366?via=ihub
Diritti
open access
license:creative commons
license:creative commons
license uri:http://creativecommons.org/licenses/by/4.0/
license uri:http://creativecommons.org/licenses/by/4.0/
FVG url
https://arts.units.it/bitstream/11368/3019795/1/1-s2.0-S2589004219302366-main.pdf
Soggetti
  • Mapping-free

  • Genotyping

  • Next Generation Seque...

  • Multi-Allelic SNP

  • Indel

  • Bioinformatic

  • Biological Science

  • Genetic

  • Genomics

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