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Author Details

Thomas M Keane
European Bioinformatics Institute
2005
88
44
Nathan Sheffield (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36711784IFI207, a young and fast-evolving antiviral factor, stabilizes STING.bioRxiv2023
34718739The European Variation Archive: a FAIR resource of genomic variation for all species.Nucleic Acids Res2022
35296311Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.BMC Biol2022
34260694Refget: standardized access to reference sequences.Bioinformatics2021
33543751Crypt4GH: a file format standard enabling native access to encrypted data.Bioinformatics2021
33594436HTSlib: C library for reading/writing high-throughput sequencing data.Gigascience2021
33590861Twelve years of SAMtools and BCFtools.Gigascience2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
34599180The growing need for controlled data access models in clinical proteomics and metabolomics.Nat Commun2021
32728065Transcriptional activity and strain-specific history of mouse pseudogenes.Nat Commun2020
34367618The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.F1000Res2020
31722421The European Nucleotide Archive in 2019.Nucleic Acids Res2020
32600361Integration of genomics, metagenomics, and metabolomics to identify interplay between susceptibility alleles and microbiota in adenoma initiation.BMC Cancer2020
30395270The European Nucleotide Archive in 2018.Nucleic Acids Res2019
31725724Mouse protein coding diversity: What's left to discover?PLoS Genet2019
29931085htsget: a protocol for securely streaming genomic data.Bioinformatics2019
31492841Similarities and differences in patterns of germline mutation between mice and humans.Nat Commun2019
31520075Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022.Nat Rev Genet2019
31455890Leveraging European infrastructures to access 1 million human genomes by 2022.Nat Rev Genet2019
31013298Structural and diffusion weighted MRI demonstrates responses to ibrutinib in a mouse model of follicular helper (Tfh) T-cell lymphoma.PLoS One2019
29311744Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.Nat Neurosci2018
29992973A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity.Sci Rep2018
29884752Comparative Annotation Toolkit (CAT)-simultaneous clade and personal genome annotation.Genome Res2018
29875394Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.Nat Neurosci2018
30341161Chromosome assembly of large and complex genomes using multiple references.Genome Res2018
30275530Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.Nat Genet2018
29563166Repeat associated mechanisms of genome evolution and function revealed by the <i>Mus caroli</i> and <i>Mus pahari</i> genomes.Genome Res2018
29140475The European Nucleotide Archive in 2017.Nucleic Acids Res2018
27820796Genome-wide genetic screening with chemically mutagenized haploid embryonic stem cells.Nat Chem Biol2017
28438259Variation in olfactory neuron repertoires is genetically controlled and environmentally modulated.Elife2017
28117402Whole-exome sequencing of 228 patients with sporadic Parkinson's disease.Sci Rep2017
28592499Structural Variation Shapes the Landscape of Recombination in Mouse.Genetics2017
28926970Proteomic Characterization of Armillaria mellea Reveals Oxidative Stress Response Mechanisms and Altered Secondary Metabolism Profiles.Microorganisms2017
28638050De novo yeast genome assemblies from MinION, PacBio and MiSeq platforms.Sci Rep2017
27986821Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes.Genome Res2017
27074153An Integrated Genome-Wide Systems Genetics Screen for Breast Cancer Metastasis Susceptibility Genes.PLoS Genet2016
27765810Whole Genome Sequence of Two Wild-Derived Mus musculus domesticus Inbred Strains, LEWES/EiJ and ZALENDE/EiJ, with Different Diploid Numbers.G3 (Bethesda)2016
27480531Deep genome sequencing and variation analysis of 13 inbred mouse strains defines candidate phenotypic alleles, private variation and homozygous truncating mutations.Genome Biol2016
25363767The mutational landscapes of genetic and chemical models of Kras-driven lung cancer.Nature2015
26123534The Mouse Genomes Project: a repository of inbred laboratory mouse strain genomes.Mamm Genome2015
26150413Interplay between Gliotoxin Resistance, Secretion, and the Methyl/Methionine Cycle in Aspergillus fumigatus.Eukaryot Cell2015
25843629The BRAF pseudogene functions as a competitive endogenous RNA and induces lymphoma in vivo.Cell2015
25899817Synthetic viability genomic screening defines Sae2 function in DNA repair.EMBO J2015
26020497Off-target mutations are rare in Cas9-modified mice.Nat Methods2015
25665008The genomic and phenotypic diversity of Schizosaccharomyces pombe.Nat Genet2015
24686849POT1 loss-of-function variants predispose to familial melanoma.Nat Genet2014
25505254Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.J Natl Cancer Inst2014
25311525RNA-seq reveals the pan-transcriptomic impact of attenuating the gliotoxin self-protection mechanism in Aspergillus fumigatus.BMC Genomics2014
25071822Identification of structural variation in mouse genomes.Front Genet2014
24747760A strategy to identify dominant point mutant modifiers of a quantitative trait.G3 (Bethesda)2014
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Collaborators

Wellcome Sanger Institute
Co-authored papers 40
Center for Neurobehavioral Genetics
Co-authored papers 12
European Bioinformatics Institute
Co-authored papers 10
University of Cambridge
Co-authored papers 8
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 5
Wellcome Sanger Institute
Co-authored papers 5
Co-authored papers 5
Spain Universitat de Barcelona (UB)
Co-authored papers 5
European Bioinformatics Institute
Co-authored papers 5
European Bioinformatics Institute
Co-authored papers 5
Hospital Universitari Vall d'Hebron
Co-authored papers 5
Big Data Institute, University of Oxford
Co-authored papers 4
University of Zurich
Co-authored papers 4
Cancer Research UK Cambridge Institute, University of Cambridge
Co-authored papers 4
Medical Research Council Functional Genomics Unit, University of Oxford
Co-authored papers 4
Josep Carreras Leukaemia Research Institute (IJC)
Co-authored papers 4
European Bioinformatics Institute
Co-authored papers 4
Wellcome Sanger Institute
Co-authored papers 4
UC Santa Cruz Genomics Institute, University of California
Co-authored papers 4
Wellcome Sanger Institute
Co-authored papers 4
Liver Center and Diabetes Center, University of California san francisco
Co-authored papers 4
The University of Edinburgh
Co-authored papers 4
Yale University
Co-authored papers 3
Ontario Institute for Cancer Research
Co-authored papers 3
European Bioinformatics Institute
Co-authored papers 3
European Bioinformatics Institute (EMBL-EBI)
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Broad Institute
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Pfizer Ltd
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Spanish National Bioinformatics Institute (INB/ELIXIR-ES)
Co-authored papers 3
Wellcome Trust Sanger Institute
Co-authored papers 3