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Population genetics is the study of the genetic composition of populations, including distributions and changes in genotype and phenotype frequency in response to the processes of natural selection, genetic drift, mutation and gene flow.
Integrating human pluripotent stem cell models with population genetics and cellular genomics can help elucidate functional mechanisms underlying complex disease risk loci and uncover relationships between common genetic variation and pharmacotherapeutic phenotypes.
By digitizing a large lexical dataset of Chinese dialects and comparing it to genetic profiles, Yang et al. reveal a hybrid model of language diffusion, consisting of both population migrations and social learning across different regions of China.
This study explores selection signals of Papua New Guinean highlanders and lowlanders using 128 new whole genome sequences. It highlights two genetic variants associated with blood traits that also influence the heart rate of these populations.
In this Comment, Lamkin and Gymrek discuss recent results that suggest that the systematic incorporation of tandem repeats into complex trait analyses will yield a rich source of causal variants and new biological insights.
Reflecting on the importance of short tandem repeats (STRs) in population genetics, Ning Xie highlights a 2023 publication that characterized genome-wide STR variation in global human genomes to expand our understanding of STR genetic diversity within and across populations.
A publication in Nature reports the data release of around 245,000 clinical-grade whole-genome sequences as part of the NIH’s All of Us Research Programme. Several companion papers highlight the value of better capturing global genomic diversity.
In this Journal Club, Yoav Ram recalls how he reconciled results from his own research with the reduction principle through the help of a paper published in PNAS by Altenberg et al.