Structural variants in the human genome include cytogenetically detectable and submicroscopic deletions, duplications, large-scale copy-number variants, inversions and translocations. The ability ...

Stanford scientists have identified 380 key genetic variants that significantly influence cancer development, filtering ...

Curled up inside every single one of the trillions of cells in the human body is six feet of DNA, spooled tightly and carrying the genetic instructions that govern so much of who a person becomes.

Stanford Medicine researchers sifted through thousands of single nucleotide mutations in DNA to identify fewer than 400 that are functionally associated with inherited cancer risk.

Thousands of single changes in the nucleotides that make up the human genome have been associated with an increased risk of ...

Neurogeneticists have discovered a novel genetic mutation and associated buildup of toxic proteins in the brain -- a type of buildup distinct from amyloid or tau, proteins that have long been the ...

This study identifies 47,350 enhancers active in human neurons during differentiation and links some to genes involved in ...

Repeats Raise Risk. The more STR expansions a person carried, the higher their odds for AD (left). People with more repeat expansions tended to have worse tau pathology as per Braak stage (right).