For how we live.
Linking exome data to electronic medical records solved 15% of unexplained hearing-loss cases and flagged new candidate genes — while showing what the records could not supply.
The country's blood-spot programme has run since 2003 and reaches nearly every baby. A pilot adds genomic sequencing — where a study of Qatari genomes suggests the biggest gains lie.
A mandatory citywide programme sequenced 782 genes in 1,000 prospective couples. The at-risk rate was double that of a comparable Australian study, and most flagged couples still chose to marry.
Chronic granulomatous disease is usually X-linked in Western cohorts. A multicentre Middle East and North Africa registry found the opposite pattern, alongside late diagnosis and a median survival of 8.5 years.
Peruvian Andeans are famous for high haemoglobin at altitude. A genome-wide scan finds the alleles under recent positive selection are the ones that lower it — a pattern closer to Tibetans than expected.
A Nature Communications review of the continent's biomedical data science capacity found none of 36 surveyed groups using cloud high-performance computing, and named electricity outages among the most common obstacles.
Of 1,363 evaluable patients matched to drugs by tumor genetics, 7% became exceptional responders. Activity across all 37 drugs was modest, and severe side effects hit over a quarter.
Sequencing 6,141 people turned high consanguinity into a research advantage: it produced natural human knockouts that population studies elsewhere almost never see.
AlphaGenome takes a million base pairs of DNA and predicts what the sequence does. In Nature on January 28, it matched or beat the best existing models in 25 of 26 variant-effect evaluations.
Two Nature papers describe the Taiwan Precision Medicine Initiative and the risk scores built from it. The genetic effects identified explained up to 10.3% of health variation in the cohort.