Precise detection of de novo single nucleotide variants in human genomes.

ABSTRACT: The precise determination of de novo genetic variants has enormous implications across different fields of biology and medicine, particularly personalized medicine. Currently, de novo variations are identified by mapping sample reads from a parent-offspring trio to a reference genome, allowing for a certain degree of differences. While widely used, this approach often introduces false-positive (FP) results due to misaligned reads and mischaracterized sequencing errors. In a previous study, we developed an alternative approach to accurately identify single nucleotide variants (SNVs) using only perfect matches. However, this approach could be applied only to haploid regions of the genome and was computationally intensive. In this study, we present a unique approach, coverage-based single nuc

SUBMITTER: Gomez-Romero L 

PROVIDER: S-EPMC6003530 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature