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Article

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

Genome research - 1 Feb 2014

Santoni Federico A, Makrythanasis Periklis, Nikolaev Sergey, Guipponi Michel, Robyr Daniel, Bottani Armand, Antonarakis Stylianos E

Abstract excerpt

There is increasing interest in clinical genetics pertaining to the utilization of high-throughput sequencing data for accurate diagnoses of monogenic diseases. Moreover, massive whole-exome sequencing of tumors has provided significant advances in the understanding of cancer development through the recognition of somatic driver variants. To improve the identification of the variants from HTS, we developed...

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Identifiers

PMID: 24389049
DOI: 10.1101/gr.163832.113
PMCID: PMC3912425

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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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