The fly Drosophila melanogaster is one of the most intensively studied organisms in biology
and serves as a model system for the investigation of many developmental and cellular …

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with
unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (…

The first wave of information from the analysis of the human genome revealed SNPs to be
the main source of genetic and phenotypic human variation. However, the advent of genome-…

Geant4 is a toolkit for simulating the passage of particles through matter. It includes a complete
range of functionality including tracking, geometry, physics models and hits. The physics …

… V ST is calculated by considering (V T - V S )/V T , where V T is the variance in log 2
ratios apparent among all unrelated individuals and V S is the average variance within each …

Determining the genetic basis of cancer requires comprehensive analyses of large collections
of histopathologically well-classified primary tumours. Here we report the results of a …

The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

Genes have a major role in the control of high-density lipoprotein (HDL) cholesterol (HDL-C)
levels. Here we have identified two Tangier disease (TD) families, confirmed 9q31 linkage …

… specified (PDD-NOS) and Asperger’s disorder. The three core characteristics of the ASDs
are … Asperger’s disorder differs from autism in that individuals have an absence of clinically …

Presented here is a genome sequence of an individual human. It was produced from ∼32
million random DNA fragments, sequenced by Sanger dideoxy technology and assembled …