Target-enrichment strategies for next-generation sequencing

L Mamanova, AJ Coffey, CE Scott, I Kozarewa… - Nature …, 2010 - nature.com
We have not yet reached a point at which routine sequencing of large numbers of whole
eukaryotic genomes is feasible, and so it is often necessary to select genomic regions of interest …

The DNA sequence of the human X chromosome

MT Ross, DV Grafham, AJ Coffey, S Scherer, K McLay… - Nature, 2005 - nature.com
The human X chromosome has a unique biology that was shaped by its evolution as the sex
chromosome shared by males and females. We have determined 99.3% of the euchromatic …

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

AJ Coffey, RA Brooksbank, O Brandau, T Oohashi… - Nature …, 1998 - nature.com
X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme
sensitivity to Epstein-Barr virus (EBV), resulting in a complex phenotype manifested by …

A genetic study of Wilson's disease in the United Kingdom

AJ Coffey, M Durkie, S Hague, K McLay, J Emmerson… - Brain, 2013 - academic.oup.com
Previous studies have failed to identify mutations in the Wilson’s disease gene ATP7B in a
significant number of clinically diagnosed cases. This has led to concerns about genetic …

Exon structure of the human dystrophin gene

RG Roberts, AJ Coffey, M Bobrow, DR Bentley - Genomics, 1993 - Elsevier
Application of a novel vectorette PCR approach to defining intron-exon boundaries has
permitted completion of analysis of the exon structure of the largest and most complex known …

Timing is everything'; graduate accountants, time and organizational commitment

AJ Coffey - Sociology, 1994 - journals.sagepub.com
Studies have revealed that organizational commitment is often managed through symbolism.
This paper focuses upon how time is used in an organizational context, symbolically and …

[HTML][HTML] Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus

…, M Von Lehe, P Hoffmann, J Eriksson, AJ Coffey… - Nature …, 2015 - nature.com
Gene-regulatory network analysis is a powerful approach to elucidate the molecular
processes and pathways underlying complex disease. Here we employ systems genetics …

[HTML][HTML] The gene curation coalition: a global effort to harmonize gene–disease evidence resources

…, E Birney, C Bocchini, EA Bruford, AJ Coffey… - Genetics in …, 2022 - Elsevier
Purpose Several groups and resources provide information that pertains to the validity of
gene–disease relationships used in genomic medicine and research; however, universal …

[HTML][HTML] A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

E Lenassi, A Vincent, Z Li, Z Saihan, AJ Coffey… - European Journal of …, 2015 - nature.com
Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal
disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we …

[HTML][HTML] A Comparison of the Whole Genome Approach of MeDIP-Seq to the Targeted Approach of the Infinium HumanMethylation450 BeadChip® for Methylome …

…, E Grundberg, P Deloukas, A Palotie, AJ Coffey - PloS one, 2012 - journals.plos.org
DNA methylation is one of the most studied epigenetic marks in the human genome, with the
result that the desire to map the human methylome has driven the development of several …