ArCH: improving the performance of clonal hematopoiesis variant calling and interpretation.

doi:10.1093/bioinformatics/btae121

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Article

ArCH: improving the performance of clonal hematopoiesis variant calling and interpretation.

Bioinformatics (Oxford, England) - 29 Mar 2024

Chan Irenaeus C C, Panchot Alex, Schmidt Evelyn, McNulty Samantha, Wiley Brian J, Liu Jie, Turner Kimberly, Moukarzel Lea, Wong Wendy S W, Tran Duc, Beeler J Scott, Batchi-Bouyou Armel Landry, Machiela Mitchell J, Karyadi Danielle M, Krajacich Benjamin J, Zhao Junhua, Kruglyak Semyon, Lajoie Bryan, Levy Shawn, Patel Minal, Kantoff Philip W, Mason Christopher E, Link Daniel C, Druley Todd E, Stopsack Konrad H, Bolton Kelly L

Abstract excerpt

MOTIVATION: The acquisition of somatic mutations in hematopoietic stem and progenitor stem cells with resultant clonal expansion, termed clonal hematopoiesis (CH), is associated with increased risk of hematologic malignancies and other adverse outcomes. CH is generally present at low allelic fractions, but clonal expansion and acquisition of additional mutations leads to hematologic cancers in a small proportion...

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PMID: 38485690
DOI: 10.1093/bioinformatics/btae121
PMCID: PMC11014783

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