Origins of modern human ancestry

A Bergström, C Stringer, M Hajdinjak, EML Scerri… - Nature, 2021 - nature.com
New finds in the palaeoanthropological and genomic records have changed our view of the
origins of modern human ancestry. Here we review our current understanding of how the …

Pan-genomics in the human genome era

RM Sherman, SL Salzberg - Nature Reviews Genetics, 2020 - nature.com
Since the early days of the genome era, the scientific community has relied on a single
'reference'genome for each species, which is used as the basis for a wide range of genetic …

The complete sequence of a human Y chromosome

A Rhie, S Nurk, M Cechova, SJ Hoyt, DJ Taylor… - Nature, 2023 - nature.com
The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …

The complete sequence of a human genome

S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze… - Science, 2022 - science.org
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …

The Allen Ancient DNA Resource (AADR) a curated compendium of ancient human genomes

S Mallick, A Micco, M Mah, H Ringbauer, I Lazaridis… - Scientific Data, 2024 - nature.com
More than two hundred papers have reported genome-wide data from ancient humans.
While the raw data for the vast majority are fully publicly available testifying to the …

High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

M Byrska-Bishop, US Evani, X Zhao, AO Basile… - Cell, 2022 - cell.com
Summary The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-
genome sequencing (WGS) data consented for public distribution without access or use …

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin… - Science, 2021 - science.org
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

A complete reference genome improves analysis of human genetic variation

S Aganezov, SM Yan, DC Soto, M Kirsche, S Zarate… - Science, 2022 - science.org
Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …

Genomic insights into the formation of human populations in East Asia

CC Wang, HY Yeh, AN Popov, HQ Zhang… - Nature, 2021 - nature.com
The deep population history of East Asia remains poorly understood owing to a lack of
ancient DNA data and sparse sampling of present-day people,. Here we report genome …

On the limits of fitting complex models of population history to f-statistics

R Maier, P Flegontov, O Flegontova, U Işıldak… - Elife, 2023 - elifesciences.org
Our understanding of population history in deep time has been assisted by fitting admixture
graphs (AGs) to data: models that specify the ordering of population splits and mixtures …