Article

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

2025-04-30

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 levels of sequence similarity in some regions, like the pseudoautosomal regions (PARs) and the X-transposed region (XTR). The sex chromosomes violate some assumptions of autosomal pairs, but...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 54274ec9-65dc-5b81-a0b1-a47939bcfd59
DOI: 10.1101/2025.04.29.651297

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Best practices for improving alignment and variant calling on human sex chromosomesDOI 10.1101/2025.04.29.651297Read

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

Concerning the eXclusion in human genomics: The choice of sex chromosome representation in the human genome drastically affects number of identified variantsSemantic proximity Read

Reference genome and transcriptome informed by the sex chromosome complement of the sample increases ability to detect sex differences in gene expression from RNA-Seq dataSemantic proximity Read

Small variant benchmark from a complete assembly of X and Y chromosomesSemantic proximity Read

Concerning the eXclusion in human genomics: the choice of sex chromosome representation in the human genome drastically affects the number of identified variantsSemantic proximity Read

An Algorithm for Sequence Location Approximation using Nuclear Families (ASLAN) Validates Regions of the Telomere-to-Telomere Assembly and Identifies New Hotspots for Genetic DiversitySemantic proximity Read

A complete diploid human genome benchmark for personalized genomicsSemantic proximity Read

Localizing unmapped sequences with families to validate the Telomere-to-Telomere assembly and identify new hotspots for genetic diversity.Semantic proximity Read

Accurate Bayesian inference of sex chromosome karyotypes and sex-linked scaffolds from low-depth sequencing dataSemantic proximity Read

Inversion polymorphism in a complete human genome assemblySemantic proximity Read

Genetic diversity on the human X chromosome does not support a strict pseudoautosomal boundarySemantic proximity Read

Introducing the Y chromosome ancestral reference sequence - Improving the capture of human evolutionary informationSemantic proximity Read