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 …

The need for a human pangenome reference sequence

KH Miga, T Wang - Annual Review of Genomics and Human …, 2021 - annualreviews.org
The reference human genome sequence is inarguably the most important and widely used
resource in the fields of human genetics and genomics. It has transformed the conduct of …

A genomic mutational constraint map using variation in 76,156 human genomes

S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai… - Nature, 2024 - nature.com
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …

Nucleotide Transformer: building and evaluating robust foundation models for human genomics

H Dalla-Torre, L Gonzalez, J Mendoza-Revilla… - Nature …, 2024 - nature.com
The prediction of molecular phenotypes from DNA sequences remains a longstanding
challenge in genomics, often driven by limited annotated data and the inability to transfer …

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 …

Human genetic diversity alters off-target outcomes of therapeutic gene editing

S Cancellieri, J Zeng, LY Lin, M Tognon, MA Nguyen… - Nature …, 2023 - nature.com
CRISPR gene editing holds great promise to modify DNA sequences in somatic cells to treat
disease. However, standard computational and biochemical methods to predict off-target …

Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

A Wang, J Shen, AA Rodriguez, EJ Saunders, F Chen… - Nature …, 2023 - nature.com
The transferability and clinical value of genetic risk scores (GRSs) across populations
remain limited due to an imbalance in genetic studies across ancestrally diverse …

The structure, function and evolution of a complete human chromosome 8

GA Logsdon, MR Vollger, PH Hsieh, Y Mao… - Nature, 2021 - nature.com
The complete assembly of each human chromosome is essential for understanding human
biology and evolution,. Here we use complementary long-read sequencing technologies to …

Genomic inference of a severe human bottleneck during the Early to Middle Pleistocene transition

W Hu, Z Hao, P Du, F Di Vincenzo, G Manzi, J Cui… - Science, 2023 - science.org
Population size history is essential for studying human evolution. However, ancient
population size history during the Pleistocene is notoriously difficult to unravel. In this study …

Race and genetic ancestry in medicine—a time for reckoning with racism

LN Borrell, JR Elhawary, E Fuentes-Afflick… - … England Journal of …, 2021 - Mass Medical Soc
Race and Genetic Ancestry in Medicine US health inequities won't be eliminated by
abandoning the use of race and ethnicity in research and clinical practice, since these …