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 …

Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …

Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …

INTRODUCTION Large-scale human genome-sequencing studies to date have been limited
to large, metropolitan populations or to small numbers of genomes from each group. Much …

Genotype imputation is a key component of genetic association studies, where it increases
power, facilitates meta-analysis, and aids interpretation of signals. Genotype imputation is …

Latin America continues to be severely underrepresented in genomics research, and fine-
scale genetic histories and complex trait architectures remain hidden owing to insufficient …

Background: The cytochrome P450 (CYP) enzymes are membrane-bound hemoproteins
that play a pivotal role in the detoxification of xenobiotics, cellular metabolism and …

Ancient DNA makes it possible to observe natural selection directly by analysing samples
from populations before, during and after adaptation events. Here we report a genome-wide …

Background For more than a decade, risk stratification for hypertrophic cardiomyopathy has
been enhanced by targeted genetic testing. Using sequencing results, clinicians routinely …

Genetic architecture describes the characteristics of genetic variation that are responsible for
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …