Andrew Kirby

TL;DR: The extent to which common genetic variation underlies the risk of schizophrenia is shown, using two analytic approaches, and the major histocompatibility complex is implicate, which is shown to involve thousands of common alleles of very small effect.

TL;DR: A new method, efficient mixed-model association (EMMA), which corrects for population structure and genetic relatedness in model organism association mapping and takes advantage of the specific nature of the optimization problem in applying mixed models for association mapping, which allows for substantially increase the computational speed and reliability of the results.

TL;DR: Results from de novo events and a large parallel case–control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors and support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5- to 20-fold.

TL;DR: A map of human CNV (at 2-kb breakpoint resolution) informed by integer genotypes for 1,320 copy number polymorphisms (CNPs) that segregate at an allele frequency >1% is developed, indicating that large (>100 kb) CNVs affect much less of the genome than initially reported.

TL;DR: This model is used to identify ∼1,000 genes that are significantly lacking in functional coding variation in non-ASD samples and are enriched for de novo loss-of-function mutations identified in ASD cases, suggesting that the role of de noVO mutations in ASDs might reside in fundamental neurodevelopmental processes.