[HTML][HTML] Guidelines for investigating causality of sequence variants in human disease
The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing
disease-causing sequence variants from the many potentially functional variants present in …
disease-causing sequence variants from the many potentially functional variants present in …
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
GM Cooper, J Shendure - Nature Reviews Genetics, 2011 - nature.com
Genome and exome sequencing yield extensive catalogues of human genetic variation.
However, pinpointing the few phenotypically causal variants among the many variants present …
However, pinpointing the few phenotypically causal variants among the many variants present …
Obesity and obstetric anaesthesia
K Saravanakumar, SG Rao, GM Cooper - Anaesthesia, 2006 - Wiley Online Library
The prevalence of obesity continues to increase despite preventive strategies. Obese
parturients are at increased risk of having either concurrent medical problems or superimposed …
parturients are at increased risk of having either concurrent medical problems or superimposed …
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
…, L Armengol, CP Bird, TG Clark, GM Cooper… - nature, 2007 - nature.com
We report the generation and analysis of functional data from multiple, diverse experiments
performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE …
performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE …
A general framework for estimating the relative pathogenicity of human genetic variants
Current methods for annotating and interpreting human genetic variation tend to exploit a
single information type (for example, conservation) and/or are restricted in scope (for example, …
single information type (for example, conservation) and/or are restricted in scope (for example, …
Regulation of neuronal survival by the serine-threonine protein kinase Akt
A signaling pathway was delineated by which insulin-like growth factor 1 (IGF-1) promotes
the survival of cerebellar neurons. IGF-1 activation of phosphoinositide 3-kinase (PI3-K) …
the survival of cerebellar neurons. IGF-1 activation of phosphoinositide 3-kinase (PI3-K) …
CADD: predicting the deleteriousness of variants throughout the human genome
… We thank current and previous members of the Cooper, Kircher, Shendure and Witten
laboratories for helpful discussions and suggestions. We thank all current and previous members …
laboratories for helpful discussions and suggestions. We thank all current and previous members …
The ENCODE (ENCyclopedia of DNA elements) project
The ENCyclopedia Of DNA Elements (ENCODE) Project aims to identify all functional elements
in the human genome sequence. The pilot phase of the Project is focused on a specified …
in the human genome sequence. The pilot phase of the Project is focused on a specified …
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
…, SE McCarthy, AM Addington, SB Pierce, GM Cooper… - science, 2008 - science.org
Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain
elusive. We hypothesize that individually rare structural variants contribute to the illness. …
elusive. We hypothesize that individually rare structural variants contribute to the illness. …
Requirement for phosphatidylinositol-3 kinase in the prevention of apoptosis by nerve growth factor
R Yao, GM Cooper - Science, 1995 - science.org
Nerve growth factor (NGF) induces both differentiation and survival of neurons by binding to
the Trk receptor protein tyrosine kinase. Although Ras is required for differentiation, it was …
the Trk receptor protein tyrosine kinase. Although Ras is required for differentiation, it was …