Genomics-based evidence support population- and sex-specific selection of an epistatic interaction between genetic variants in ADCY9 and CETP, genes of pharmacogenetic importance in cardiovascular diseases.
Direct-to-consumer genetic genealogy services that allow users to upload their own datasets are vulnerable to attacks on genetic privacy that exploit the structure of genetic variation.
A new autoencoder-based genotype imputation method shows superior accuracy across human genomes of diverse ancestry and across the allele-frequency spectrum, while delivering significantly faster inference run times relative to standard imputation tools.
Heritable mutations tend to occur within different DNA sequence contexts in different human populations, suggesting that DNA replication and repair often change in efficacy over only a few hundred generations of evolution.
Analyses of spindle genes with missense changes in modern humans reveal evidence for positive selection since the split with archaic humans and show that modern humans interacted with Neandertals more than once in the past 200,000 years.
An improved conditional gene-based association analysis framework guided by multiple variant-gene mapping strategies was built and evaluated based on its performance in predicting the potential susceptibility isoforms, genes, and tissues of schizophrenia.
Skin cells from a patient with retinitis pigmentosa have been used to generate induced pluripotent stem cells, which could potentially form the basis of new treatments for this disease.
Genetic association analyses in Latin American individuals revealed two additional loci associated with COVID-19 that were not previously found in other population groups.
Thomas P Spargo, Lachlan Gilchrist ... Alfredo Iacoangeli
Pleiotropic loci that play a role in multiple neuropsychiatric diseases exist, but many of them might contribute to each disease via a distinct mechanism.
