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Showing 1–9 of 9 results

Advanced filters: Author: Pille Hallast Clear advanced filters

Assembly of 43 human Y chromosomes reveals extensive complexity and variation

De novo assemblies of 43 Y chromosomes spanning 182,900 years of human evolution reveal considerable diversity in the size and structure of the human Y chromosome.

Pille Hallast
Peter Ebert
Charles Lee
Research23 Aug 2023
Nature

Volume: 621, P: 355-364
Human de novo mutation rates from a four-generation pedigree reference

Analysis of more than 95% of each diploid human genome of a four-generation, twenty-eight-member family using five complementary short-read and long-read sequencing technologies provides a truth set to understand the most fundamental processes underlying human genetic variation.

David Porubsky
Harriet Dashnow
Evan E. Eichler
ResearchOpen Access23 Apr 2025
Nature

P: 1-10
The complete sequence and comparative analysis of ape sex chromosomes

Reference assemblies of great ape sex chromosomes show that Y chromosomes are more variable in size and sequence than X chromosomes and provide a resource for studies on human evolution and conservation genetics of non-human apes.

Kateryna D. Makova
Brandon D. Pickett
Adam M. Phillippy
ResearchOpen Access29 May 2024
Nature

Volume: 630, P: 401-411
Structural polymorphism and diversity of human segmental duplications

Analysis of 170 human genomes assembled using long-read sequencing provides a map of structural variation within regions of segmental duplication and identifies novel candidate protein-coding genes supported by full-length Iso-Seq reads.

Hyeonsoo Jeong
Philip C. Dishuck
Evan E. Eichler
ResearchOpen Access08 Jan 2025
Nature Genetics

Volume: 57, P: 390-401
Large-scale recent expansion of European patrilineages shown by population resequencing

The origins and antiquity of the people of Europe has been much debated. Here, the authors sequence 3.7 Mb of the Y chromosome in over 300 Europeans and Middle Easterners and show a recent, continent-wide and male-specific expansion dating back to the Bronze Age.

Chiara Batini
Pille Hallast
Mark A. Jobling
ResearchOpen Access19 May 2015
Nature Communications

Volume: 6, P: 1-8
Impact and characterization of serial structural variations across humans and great apes

Structural variants (SV) can accumulate in repeat-rich parts of the genome and transform them in unexpected ways. Here, with their new assembly-based genotyper (NAHRwhals), the authors verify multi-step SVs in 37 human loci and identify alleles at risk for copy-number variation.

Wolfram Höps
Tobias Rausch
Fritz J. Sedlazeck
ResearchOpen Access13 Sept 2024
Nature Communications

Volume: 15, P: 1-15
Subdividing Y-chromosome haplogroup R1a1 reveals Norse Viking dispersal lineages in Britain

Gurdeep Matharu Lall
Maarten H. D. Larmuseau
Mark A. Jobling
ResearchOpen Access02 Nov 2020
European Journal of Human Genetics

Volume: 29, P: 512-523
Population resequencing of European mitochondrial genomes highlights sex-bias in Bronze Age demographic expansions

Chiara Batini
Pille Hallast
Mark A. Jobling
ResearchOpen Access21 Sept 2017
Scientific Reports

Volume: 7, P: 1-8
Signatures of human European Palaeolithic expansion shown by resequencing of non-recombining X-chromosome segments

Pierpaolo Maisano Delser
Rita Neumann
Mark A Jobling
ResearchOpen Access25 Jan 2017
European Journal of Human Genetics

Volume: 25, P: 485-492