Until recently, single nucleotide polymorphisms (SNPs) were thought to represent the only source of inter-individual variation at the genome level. Subsequently, it became apparent that different ...

The evolution of the MUC7 gene, which encodes a saliva protein, was studied by scientists at the University at Buffalo. To capture the gene’s proline-, threonine-, and serine-rich tandem repeat copy ...

We learn that we inherit two copies of every gene, one from each of our parents, but the story is a bit more complex. Some parts of the genome may be duplicated, or deleted, in some people. The number ...

“Such knowledge on physiological decline throughout pregnancy and the remarkable rejuvenation right after delivery will assist with revolutionizing our approach to treating the elderly.” “We ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

Genome sequencing is a successful approach for simultaneously detecting both copy number variants and sequence variants in genes involved in autosomal recessive diseases.

Accurate prediction of CYP2D6 activity from genotype data is of utmost importance as CYP2D6 pharmacogenetic (PGx) testing is increasingly used to guide drug therapy. However, given the complexity of ...

Sequences of 529 cancer driver genes were analyzed in 6,381 tumors, yielding 391 NF1-mutated tumors in which NF1 LOH analysis was performed. Driver genes were evaluated by tumor type including ...