Three cases suggest some clinicians lack understanding of relatively common autosomal recessive disorders and are ...

Single-cell expression quantitative trait loci (sceQTL) mapping offers a powerful approach for understanding gene regulation and its heterogeneity across cell types and states. It has profound ...

Despite rapid advances in reading the genetic code of living organisms, scientists still face a major challenge today—knowing a gene's sequence does not automatically reveal what it does. Even in ...

For decades, geneticists have known that most common illnesses are not caused by a single rogue gene but by intricate constellations of DNA variants acting together in specific cells. Now a new ...

Understanding inheritance patterns in polyploid crops has long posed technical and financial challenges, particularly in species like tetraploid blueberry. This study introduces a cost-effective, ...

Our understanding of human metabolism is mostly based on dedicated hypothesis testing in experimental settings, informed by model organisms or observations in patients with rare diseases. Only ...

People diagnosed with autism in early childhood may have genetic and developmental differences from those diagnosed in late childhood and onwards. This is the finding of researchers from the ...