Scientists might have succeeded in sequencing the entire human genome, but that doesn’t mean they aren’t still learning new ...

How do mutations ... to find genetic changes that predispose individuals to certain traits, including disease. On average, SNPs are found every 1,000–2,000 nucleotides in the human genome ...

The scientists used a combination of short- and long-read sequencing data to assemble and analyze genomes from 28 members of the same family.

Researchers from the Department of Pathology, School of Clinical Medicine at the LKS Faculty of Medicine of the University of ...

The results, said György, “[highlight] the immense potential of gene correction as a medical technology.” “This is one of the first papers that used all [of the available] human models to correct the ...

Researchers have uncovered a surprising mechanism by which a single genetic mutation in the BCL11B gene causes both immune dysfunction and brain development issues.

The way DNA folds inside the nucleus of brain cells may hold the key to understanding a devastating form of brain cancer called glioblastoma, suggests a new preclinical study. The findings offer a new ...

For patients with disorders such as autism and schizophrenia, mutations in the same gene could require different treatments, according to new research from Yale School of Medicine (YSM).

GenomeIndia project publishes preliminary findings from sequencing 10,000 Indian genomes, highlighting unique genetic ...

Researchers from Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of ...

Parcells identified mutations in this gene that correlated with the virulence level of the ... For one project, he is working to compare the sequence variation of high-risk Human Papillomavirus to ...

Mutations are a part of how species adapt to the environment over very long periods of time through the process of evolution.