An international team of researchers discovered a rare genetic disease characterized by severe malformations of the limbs. As the scientists describe in the journal Nature, the condition is caused by a newly identified epigenetic ...
Evolution
Feb 11, 2021
1
123
The Japanese now have their own reference genome thanks to researchers at Tohoku University who completed and released the first Japanese reference genome (JG1).
Biotechnology
Jan 29, 2021
0
20
In a study of yeast, Johns Hopkins Medicine researchers say they have found how a fatty compound called cardiolipin helps create cellular energy. The researchers say their findings will help shed light on conditions that ...
Cell & Microbiology
Jan 6, 2021
0
110
For the last eight years, the Genome Aggregation Database (gnomAD) Consortium (and its predecessor, the Exome Aggregation Consortium, or ExAC), has been working with geneticists around the world to compile and study more ...
Biotechnology
May 28, 2020
0
8
The frequency of genetic variants associated with attention-deficit/hyperactivity disorder (ADHD) has decreased progressively in the evolutionary human lineage from the Palaeolithic to nowadays, according to a study published ...
Evolution
May 27, 2020
0
299
A specialised system of ducts transports bile and enzymes from the liver and pancreas to the intestine. In a new study, researchers from the University of Copenhagen have shown how this ductal system is formed. The new knowledge ...
Cell & Microbiology
Dec 3, 2019
0
6
We are in the midst of a fascinating journey to understand the cellular phenotypes that compose human bodies and how the human genome is used to build and maintain each cell. "To catalog our human cell types, to understand ...
Molecular & Computational biology
Oct 15, 2019
0
6
"Take with food" is a common warning for people using antibiotics, but a discovery announced this week in the scientific journal Nature may create a path to more targeted drugs.
Cell & Microbiology
Aug 16, 2019
0
125
In the time it takes you to read this sentence, every cell in your body suffers some form of DNA damage. Without vigilant repair, cancer would run rampant, and now scientists at the University of Pittsburgh have gotten a ...
Molecular & Computational biology
Jul 22, 2019
3
384
Non-Mendelian, oligogenic inheritance could be an unrecognized and important element for occurrence of hereditary retinal degenerations (HRDs, comprising retinitis pigmentosa) which are caused by ultra-rare mutations and ...
Evolution
Jul 19, 2019
0
70
