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Nebula: ultra-efficient mapping-free structural variant genotyper.

Nucleic acids research - 7 May 2021

Khorsand Parsoa, Hormozdiari Fereydoun

Abstract excerpt

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 samples is a nontrivial task that requires extensive computational resources. Furthermore, current approaches are mostly limited to only specific types of variants...

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Computer Simulation
Databases, Genetic
Genomics
Genotyping Techniques
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Whole Genome Sequencing

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PMID: 33503255
DOI: 10.1093/nar/gkab025
PMCID: PMC8096284

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