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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 22 May 2018

Gómez-Romero Laura, Palacios-Flores Kim, Reyes José, García Delfino, Boege Margareta, Dávila Guillermo, Flores Margarita, Schatz Michael C, Palacios Rafael

Abstract excerpt

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...

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PMID: 29735690
DOI: 10.1073/pnas.1802244115
PMCID: PMC6003530

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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