The complete sequence of a human Y chromosome

2023/08/23 by Arang Rhie, Sergey Nurk, Monika Čechová +96 · 1 voice · 4 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Genomics and Chromatin Dynamics #Genomics and Phylogenetic Studies

paper · doi:10.1038/s41586-023-06457-y

crossref issued 2023/08/23 · crossref published 2023/08/23 · crossref published-online 2023/08/23 · openalex publication_date 2023/08/23 · crossref created 2023/08/23 · crossref published-print 2023/09/14 · crossref deposited 2023/10/06 · openalex created_date 2025/10/10 · crossref indexed 2026/08/04 · openalex updated_date 2026/08/04

Citations

• Basic local alignment search tool
• nhmmer: DNA homology search with profile HMMs
• MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability
• deepTools2: a next generation web server for deep-sequencing data analysis
• The mutational constraint spectrum quantified from variation in 141,456 humans
• Telomere-to-telomere assembly of a complete human X chromosome
• Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies
• GENCODE 2021
• The Dfam community resource of transposable element families, sequence models, and genome annotations
• Twelve years of SAMtools and BCFtools
• Towards complete and error-free genome assemblies of all vertebrate species
• Complete genomic and epigenetic maps of human centromeres
• The complete sequence of a human genome
• Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
• A draft human pangenome reference

Cited by

• The Geographical Distribution of Lactose Tolerance‐Associated Alleles 13910*T and 13915*G Is Strongly Linked to Male Founder Events in Eurasia
• The repertoire of short tandem repeats across the tree of life
• Before the East African Radiation: Sex Chromosome Systems in Basal Haplotilapiine Cichlids
• Assessing Hardy-Weinberg Equilibrium in T2T-aligned 1000 Genomes Project

Discussions

• The T2T Consortium is releasing complete assemblies of the X and Y chromosomes [ed: this has since been published at doi.org/10.1038/s415... ], and the best practices for alignment and variant calling [bsky, 0 points, 1 comments]