A team led by University of Pittsburgh School of Public Health geneticists has shown, for the first time, that a gene ...

But what happens when a mutation occurs over multiple genes? Deletions involve the loss of DNA sequences. Phenotypic effects of deletions depend on the size and location of deleted sequences on ...

A single base change can create a devastating genetic disorder or a beneficial adaptation, or it might have no effect. How do mutations happen ... Cri du chat syndrome Duplication A region ...

Gene duplication is very important for the evolution ... However, when genes are accidentally duplicated, a beneficial mutation can be created while the original gene continues to function.

A new mega-database of half a million mutations may flag new ways of treating genetic disease, scientists say.

Biologists at Washington University in St. Louis have discovered the origin of a curious duplication that gives plants ...

The mutations, known as copy number alterations, involve the duplication or loss of large segments of DNA. In most cases, the body's natural DNA repair mechanisms correct these changes.

Patients with classic NF1 including the presence of cutaneous neurofibromas or Lisch nodules, as no genetic ... all types of mutations including single nucleotide substitutions, indels, and ...

The DNA-based NF1/SPRED1-only by NGS ... a unique bioinformatics pipeline detecting all types of mutations including single nucleotide substitutions, indels, and frameshifts caused by deletion/ ...