Origins of modern human ancestry
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 …
origins of modern human ancestry. Here we review our current understanding of how the …
The need for a human pangenome reference sequence
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 …
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
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
Nucleotide Transformer: building and evaluating robust foundation models for human genomics
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 …
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
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 …
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
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 …
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
The transferability and clinical value of genetic risk scores (GRSs) across populations
remain limited due to an imbalance in genetic studies across ancestrally diverse …
remain limited due to an imbalance in genetic studies across ancestrally diverse …
The structure, function and evolution of a complete human chromosome 8
The complete assembly of each human chromosome is essential for understanding human
biology and evolution,. Here we use complementary long-read sequencing technologies to …
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
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 …
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
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 …
abandoning the use of race and ethnicity in research and clinical practice, since these …