Anna C. Need

TL;DR: Estimating a 50% success rate for next-generation sequencing in undiagnosed genetic disorders, its application after the first clinical visit could result in a higher rate of genetic diagnosis at a considerable cost savings per successful diagnosis.

TL;DR: Genome-wide screens to identify copy number variation in patients with a diverse spectrum of epilepsy syndromes and in neurologically-normal controls implicate 16p13.11 and possibly other large deletions as risk factors for a wide range of epilepsy disorders, and they appear to point toward haploinsufficiency as a contributor to the pathogenicity of deletions.

TL;DR: In this paper, the role of 16p13.11 deletions, as well as other structural variation, in epilepsy disorders, was evaluated using genome-wide screens to identify copy number variation in 3812 patients with a diverse spectrum of epilepsy syndromes and in 1299 neurologically normal controls.

TL;DR: Common variation across the genome resulted in a conservatively estimated SNP heritability of 21.5% for general cognitive function, which provides new insight into the genetics of neurocognitive function with relevance to understanding the pathophysiology of neuropsychiatric illness.