A decade-long effort to probe gene regulation reveals differences between males and females, points to essential regulatory elements, and offers insight into past work on telomeres.
Two copies of the APOE4 variant, which confers a higher risk of dementia, doubles the risk of severe symptoms as a result of infection with SARS-CoV-2, according to a study.
Trophoblasts, collected from the mother during a blood draw, can determine fetal genetic abnormalities currently diagnosed through amniocentesis or chorionic villi sampling.
Variation in the number of CGG repeats in the FMR1 gene at the bottom of the X chromosome can lead to increased levels of mRNA or decreased levels of protein—both conditions that cause disease.
At $2 million for a single dose, Novartis’s Zolgensma is the most expensive medicine to date, but still less expensive over a lifetime than another approved drug for the rare genetic disease.
Researchers can now track the expansion of a resistance mechanism that allows the malaria vector Anopholes funestus to detoxify a key insecticide used on bed nets.
Certain populations have been historically underrepresented in genome sequencing studies, but the NIH, private clinics, and 23andMe and other companies are trying to fix that.
A trial called BabySeq, in which researchers performed genomic sequencing on 159 newborns, identified children susceptible to diseases that regular screening doesn’t look for.