Review of clinical next-generation sequencing
Context.—Next-generation sequencing (NGS) is a technology being used by many
laboratories to test for inherited disorders and tumor mutations. This technology is new for …
laboratories to test for inherited disorders and tumor mutations. This technology is new for …
A copy number variation map of the human genome
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …
observed in the general population. We explored the genes disrupted by these variants from …
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
The standard of care for first-tier clinical investigation of the aetiology of congenital
malformations and neurodevelopmental disorders is chromosome microarray analysis …
malformations and neurodevelopmental disorders is chromosome microarray analysis …
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
A small number of rare, recurrent genomic copy number variants (CNVs) are known to
substantially increase susceptibility to schizophrenia. As a consequence of the low fecundity …
substantially increase susceptibility to schizophrenia. As a consequence of the low fecundity …
Machine learning for genetic prediction of psychiatric disorders: a systematic review
Abstract Machine learning methods have been employed to make predictions in psychiatry
from genotypes, with the potential to bring improved prediction of outcomes in psychiatric …
from genotypes, with the potential to bring improved prediction of outcomes in psychiatric …
Detectable clonal mosaicism and its relationship to aging and cancer
In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-
wide association studies, we observed large chromosomal abnormalities in a subset of …
wide association studies, we observed large chromosomal abnormalities in a subset of …
Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations
Patient-specific induced pluripotent stem cells (iPSCs) derived from somatic cells provide a
unique tool for the study of human disease, as well as a promising source for cell …
unique tool for the study of human disease, as well as a promising source for cell …
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet
the genetic causes remain only partially understood as a result of extensive clinical and …
the genetic causes remain only partially understood as a result of extensive clinical and …