Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

27 Jul 2023

Abstract excerpt

Over the past 30 years, a community of scientists has pieced together every base pair of the human reference genome from telomere to telomere. Interestingly, most human genomics studies omit more than 5% of the genome from their analyses. Under "normal" circumstances, omitting any chromosome(s) from an analysis of the human genome would be a cause for concern, with the exception being sex chromosomes. Sex...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomal and Genetic Variations
Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Prenatal Screening and Diagnostics

Source

Identifiers

PMID: 37497639
DOI: 10.1093/g3journal/jkad169

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Concerning the eXclusion in human genomics: the choice of sex chromosome representation in the human genome drastically affects the number of identified variantsPMID 37497639Read ↗

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

geneXplore: An Interactive Browser for X Chromosome-Wide Association Study ResultsSemantic 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 ↗

Best practices for improving alignment and variant calling on human sex chromosomesSemantic proximity Read ↗

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

The complete sequence of a human genomeSemantic proximity Read ↗

How to include chromosome X in your genome-wide association study.Semantic proximity Read ↗

A complete reference genome improves analysis of human genetic variation.Semantic proximity Read ↗

A complete reference genome improves analysis of human genetic variationSemantic proximity Read ↗

Accounting for eXentricities: Analysis of the X chromosome in GWAS reveals X-linked genes implicated in autoimmune diseasesSemantic proximity Read ↗

Comprehensive whole-genome analyses of the UK Biobank reveal significant sex differences in both genotype missingness and allele frequency on the X chromosome.Semantic proximity Read ↗

Inversion polymorphism in a complete human genome assemblySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.