Rare diseases affect millions of people worldwide, and most have a genetic etiology. The
incorporation of next-generation sequencing into clinical settings, particularly exome and …

Precision medicine strives for highly individualized treatments for disease under the notion
that each individual's unique genetic makeup and environmental exposures imprints upon …

Exome and genome sequencing have proven to be effective tools for the diagnosis of
neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to …

Recent work has shown that copy number polymorphism is an important class of genetic
variation in human genomes,,,. Here we report a new method that uses SNP genotype data …

Over the past several years, more focus has been placed on dissecting the genetic basis of
complex diseases and traits through genome-wide association studies. In contrast …

Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …

The per-generation mutation rate in humans is high. De novo mutations may compensate for
allele loss due to severely reduced fecundity in common neurodevelopmental and …

Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting
from knockouts of these genes in mice have provided tremendous insight into gene function …

We identified 255 loci across the human genome that contain genomic imbalances among
unrelated individuals. Twenty-four variants are present in> 10% of the individuals that we …

We report the development and validation of experimental methods, study designs, and
analysis software for pooling-based genomewide association (GWA) studies that use high …