Articles tagged Human Evolution & Variation
(16 results)

Patients seeking certainty in genetic tests, such as tests for inherited susceptibility to cancer, often receive a perplexing result. Many people learn they carry a “variant of unknown significance” of a disease-linked gene. Such variants might—or equally might not—increase disease risk. In the latest issue of GENETICS, Starita et al. characterized nearly 2000 variants of…

Like all biological populations, human groups can’t be neatly divided. Real populations are connected to each other, and their borders are blurred by migration and mixing. But when inferring ancestry of an individual from genetic data, populations are typically simplified into tidy, discrete units. In the December issue of G3: Genes|Genomes|Genetics, Yang et al. describe…

One of the major risk factors for autoimmune diseases is being born with two copies of the X chromosome. For example, women—who typically carry two Xs—face around ten times the risk of lupus, while men with lupus are around 15 times more likely than the general population to carry two Xs and a Y (Klinefelter…

With genomic data from hundreds of thousands of people accumulating, geneticists are now able to mine these data for very rare, but very informative genetic variants, including loss-of-function alleles. For example, across the enormous “reference set” of human exomes announced at the 2014 American Society for Human Genetics Meeting, on average there’s a variant every six bases. In the first of our reports from the ASHG…

In Eurasia, humans once had Neanderthals for neighbors. That time of co-existence seems to have left its marks in our genome; non-Africans today share more genetic variants with Neanderthals than Africans do. But does this really mean there was interbreeding between humans and the Hominids next door? Some have previously proposed an alternative explanation for that…