This study offers important insight into the pathogenic basis of intragenic frameshift deletions in the carboxy-terminal domain of MECP2, which account for some Rett syndrome cases, yet similar ...

While exploring the provided human to chimp example, I noticed something confusing about mutation_type column in score.txt. The most common mutation type is reported as frameshift, whereas I would ...

1 School of Life Sciences, Jiangsu University, Zhenjiang, China 2 Department of Implantology and Prosthodontics, Zhenjiang Stomatological Hospital, Zhenjiang, China DNA polymerase delta (Pol δ) is a ...

Scientists link a rare genetic mutation to aggressive prostate cancer risk and possible better outcomes with targeted drugs. Credit: SciTechDaily.com A newly identified mutation dramatically raises ...

Identifying and classifying gene mutations - which are the permanent changes in a person's DNA genetic code - are critical in better understanding, and with research, eventually treating or preventing ...

Johns Hopkins Medicine-led research team believes the effect of the mutation and the number of people who carry it is similar to BRCA2 and other gene mutations that have been connected with an ...

The newer variant of avian influenza that recently infected dairy cattle in Nevada has a genetic change that’s thought to help the virus copy itself in mammals — including humans — more easily, ...

Background: Increasingly, rare variants in genes encoding sarcomeric proteins like titin, have been associated with early-onset atrial fibrillation (EOAF) in part by the development of an atrial ...

COVID-19 Response: From March 2020 to February 2022, the World Bank allocated more than $1.4 billion to enhance pandemic preparedness, directly benefiting millions of people across 22 countries in ...

Late diagnosis could lead to more invasive treatment and more severe cases. The good news is it’s almost always possible to spot signs of skin cancer visually. While skin cancer most commonly occurs ...