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- Robert H. Waterston, Kerstin Lindblad-Toh, +219 authors Eric S. Lander
- Nature
- 2002
The sequence of the mouse genome is a key informational tool for understanding the contents of the human genome and a key experimental tool for biomedical research. Here, we report the results of an… (More)
- Danielle Welter, Jacqueline A. L. MacArthur, +8 authors Helen E. Parkinson
- Nucleic Acids Research
- 2014
The National Human Genome Research Institute (NHGRI) Catalog of Published Genome-Wide Association Studies (GWAS) Catalog provides a publicly available manually curated collection of published GWAS… (More)
- Ian Korf, Paul Flicek, Daniel Duan, Michael R. Brent
- ISMB
- 2001
TWINSCAN is a new gene-structure prediction system that directly extends the probability model of GENSCAN, allowing it to exploit homology between two related genomes. Separate probability models are… (More)
- Tuuli Lappalainen, Michael Sammeth, +54 authors Emmanouil T. Dermitzakis
- Nature
- 2013
Genome sequencing projects are discovering millions of genetic variants in humans, and interpretation of their functional effects is essential for understanding the genetic basis of variation in… (More)
- James Robinson, Jason A. Halliwell, James D. Hayhurst, Paul Flicek, Peter Parham, Steven G. E. Marsh
- Nucleic Acids Research
- 2015
The Immuno Polymorphism Database (IPD) was developed to provide a centralized system for the study of polymorphism in genes of the immune system. Through the IPD project we have established a central… (More)
- William M. McLaren, Bethan Pritchard, Daniel Rios, Yuan Chen, Paul Flicek, Fiona Cunningham
- Bioinformatics
- 2010
SUMMARY
A tool to predict the effect that newly discovered genomic variants have on known transcripts is indispensible in prioritizing and categorizing such variants. In Ensembl, a web-based tool… (More)
- Barbara E. Stranger, Alexandra C. Nica, +11 authors Emmanouil T. Dermitzakis
- Nature Genetics
- 2007
Genetic variation influences gene expression, and this variation in gene expression can be efficiently mapped to specific genomic regions and variants. Here we have used gene expression profiling of… (More)
- Zamin Iqbal, Mario Cáccamo, Isaac Turner, Paul Flicek, Gilean McVean
- Nature Genetics
- 2012
Detecting genetic variants that are highly divergent from a reference sequence remains a major challenge in genome sequencing. We introduce de novo assembly algorithms using colored de Bruijn graphs… (More)
- Kerstin Lindblad-Toh, Manuel Garber, +57 authors Manolis Kellis
- Nature
- 2011
The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least… (More)
- Paul Flicek, Bronwen L. Aken, +54 authors Stephen M. J. Searle
- Nucleic Acids Research
- 2010
Ensembl (http://www.ensembl.org) integrates genomic information for a comprehensive set of chordate genomes with a particular focus on resources for human, mouse, rat, zebrafish and other high-value… (More)