Accurate whole human genome sequencing using reversible terminator chemistry (2008)
Bentley, David R., Balasubramanian, Shankar, Swerdlow, Harold P., Smith, Geoffrey P., Milton, John, Brown, Clive G., ...
DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400-800 base pair) reads, but...
A second generation human haplotype map of over 3.1 million SNPs (2007)
Frazer, Kelly A., Ballinger, Dennis G., Cox, David R., Hinds, David A., Stuve, Laura L., Gibbs, Richard A., ...
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and...
A comparison of tagging methods and their tagging space (2005)
Ke, Xiayi, Miretti, Marcos M., Broxholme, John, Hunt, Sarah, Beck, Stephan, Bentley, David R., ...
Single-nucleotide polymorphism (SNP) tagging is widely used as a way of saving genotyping costs in association studies. A number of different tagging methods have been developed to reduce the number...
Zhang, Weihua, Collins, Andrew, Gibson, Jane, Tapper, William J, Hunt, Sarah, Deloukas, Panos, ...
Genetic maps in linkage disequilibrium (LD) units play the same role for association mapping as maps in centimorgans provide at much lower resolution for linkage mapping. Association mapping of genes...
Zhang, Weihua, Collins, Andrew, Gibson, Jane, Tapper, William J., Hunt, Sarah, Deloukas, Panos, ...
Genetic maps in linkage disequilibrium (LD) units play the same role for association mapping as maps in centimorgans provide at much lower resolution for linkage mapping. Association mapping of genes...
Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples (2004)
Ke, Xiayi, Durrant, Caroline, Morris, Andrew, Hunt, Sarah, Bentley, David R, Deloukas, Panos, ...
Haplotype tagging is a means to retain most of the information in high density marker maps, while reducing genotyping requirements. Estimates of the numbers of tagging SNPs required to cover the...
Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples (2004)
Ke, Xiayi, Durrant, Caroline, Morris, Andrew, Hunt, Sarah, Bentley, David R, Deloukas, Panos, ...
Haplotype tagging is a means to retain most of the information in high density marker maps, while reducing genotyping requirements. Estimates of the numbers of tagging SNPs required to cover the...
Göttgens, Berthold, Barton, Linda M., Chapman, Michael A., Sinclair, Angus M., Knudsen, Bjarne, Grafham, Darren, ...
Göttgens, Berthold, Gilbert, James G.R., Barton, Linda M., Grafham, Darren, Rogers, Jane, Bentley, David R., ...
Decoding the human genome sequence (2000)
The year 2000 is marked by the production of the sequence of the human genome. A ‘working draft’ of high quality sequence covering 90% of the genome has been determined and a quarter is in...
Flomen, Rachel H., Green, Elizabeth P., Green, Peter M., Bentley, David R., Giannelli, Francesco
The structure of the gene coding for iduronate sulphate sulphatase (IDS) has been determined. We have used exon to exon and vectorette PCR to identify 9 exons within the IDS gene and to characterise...
The incidence and distribution of CpG (1990)
Green, Peter M., Montandon, A.Jane, Bentley, David R., Ljung, Rolf, Nilsson, Inga Marie, Giannelli, Francesco
The mutations of 76 haemophilia B patient srepresenting the whole population registered with the Malmd haemophilia centre (42) and referrals from the UK, were characterised. RFLP haplotype analysis...
Göttgens, Berthold, Barton, Linda M., Chapman, Michael A., Sinclair, Angus M., Knudsen, Bjarne, Grafham, Darren, ...
The stem cell leukemia (SCL) gene encodes a bHLH transcription factor with a pivotal role in hematopoiesis and vasculogenesis and a pattern of expression that is highly conserved between mammals and...
Genome Mapping by Fluorescent Fingerprinting
Gregory, Simon G., Howell, Gareth R., Bentley, David R.
The construction of sequence-ready maps of overlapping genomic clones is central to large-scale genome sequencing. We have implemented a method for fluorescent fingerprinting of bacterial clones to...
High-Resolution Landmark Framework for the Sequence-Ready Mapping of Xq23–q26.1
Steingruber, Helen E., Dunham, Andrew, Coffey, Alison J., Clegg, Sheila M., Howell, Gareth R., Maslen, Gareth L., ...
We have established a landmark framework map over 20–25 Mb of the long arm of the human X chromosome using yeast artificial chromosome (YAC) clones. The map has approximately one landmark per 45 kb...
Göttgens, Berthold, Gilbert, James G.R., Barton, Linda M., Grafham, Darren, Rogers, Jane, Bentley, David R., ...
Long-range comparative sequence analysis provides a powerful strategy for identifying conserved regulatory elements. The stem cell leukemia (SCL) gene encodes a bHLH transcription factor with a...
Zhang, Weihua, Collins, Andrew, Gibson, Jane, Tapper, William J., Hunt, Sarah, Deloukas, Panos, ...
Genetic maps in linkage disequilibrium (LD) units play the same role for association mapping as maps in centimorgans provide at much lower resolution for linkage mapping. Association mapping of genes...
Göttgens, Berthold, Barton, Linda M., Chapman, Michael A., Sinclair, Angus M., Knudsen, Bjarne, Grafham, Darren, ...
The stem cell leukemia (SCL) gene encodes a bHLH transcription factor with a pivotal role in hematopoiesis and vasculogenesis and a pattern of expression that is highly conserved between mammals and...
Genome Mapping by Fluorescent Fingerprinting
Gregory, Simon G., Howell, Gareth R., Bentley, David R.
The construction of sequence-ready maps of overlapping genomic clones is central to large-scale genome sequencing. We have implemented a method for fluorescent fingerprinting of bacterial clones to...
High-Resolution Landmark Framework for the Sequence-Ready Mapping of Xq23–q26.1
Steingruber, Helen E., Dunham, Andrew, Coffey, Alison J., Clegg, Sheila M., Howell, Gareth R., Maslen, Gareth L., ...
We have established a landmark framework map over 20–25 Mb of the long arm of the human X chromosome using yeast artificial chromosome (YAC) clones. The map has approximately one landmark per 45 kb...
Göttgens, Berthold, Gilbert, James G.R., Barton, Linda M., Grafham, Darren, Rogers, Jane, Bentley, David R., ...
Long-range comparative sequence analysis provides a powerful strategy for identifying conserved regulatory elements. The stem cell leukemia (SCL) gene encodes a bHLH transcription factor with a...
Zhang, Weihua, Collins, Andrew, Gibson, Jane, Tapper, William J., Hunt, Sarah, Deloukas, Panos, ...
Genetic maps in linkage disequilibrium (LD) units play the same role for association mapping as maps in centimorgans provide at much lower resolution for linkage mapping. Association mapping of genes...
Miretti, Marcos M., Walsh, Emily C., Ke, Xiayi, Delgado, Marcos, Griffiths, Mark, Hunt, Sarah, ...
Autoimmune, inflammatory, and infectious diseases present a major burden to human health and are frequently associated with loci in the human major histocompatibility complex (MHC). Here, we report a...