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Article

Best practices for improving alignment and variant calling on human sex chromosomes.

American journal of human genetics - 2 Apr 2026

Taravella Oill Angela M, Plaisier Seema B, Phung Tanya N, Wilson Melissa A

Abstract excerpt

Sex chromosome complement is the largest karyotypic variation observed in humans. X and Y chromosomes were once a pair of homologous autosomes. Although chromosome X and Y differentiated from one another, they still share high sequence similarity in some regions, such as the pseudoautosomal regions (PARs) and X-transposed region (XTR). The sex chromosomes violate some assumptions of autosomes but are not always...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41861831
DOI: 10.1016/j.ajhg.2026.02.019
PMCID: PMC13087457

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