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

ABSTRACT:

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 of individuals. With high depth and high sensitivity sequencing, CH can be detected in most adults and its clonal trajectory mapped over time. However, accurate CH variant calling is challenging due to the difficulty in distinguishing low frequency CH mutations from sequencing artifacts. The lack of well-validated bioinformatic pipelines for CH calling may contribute to lack

SUBMITTER: Chan ICC 

PROVIDER: S-EPMC11014783 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature