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Genetics

D-Index
67
Citations
77217
World Ranking
2461
National Ranking
311

Overview

Thomas M. Keane is affiliated with the European Bioinformatics Institute in the United Kingdom. Their research primarily spans the field of Biochemistry, Genetics and Molecular Biology, with a focus on several subfields including Molecular Biology, Genetics, Cancer Research, and Information Systems and Management.

The main topics of their work include Genomics and Phylogenetic Studies, Cancer Genomics and Diagnostics, Genomics and Rare Diseases, Biomedical Text Mining and Ontologies, Scientific Computing and Data Management, Research Data Management Practices, and Chromosomal and Genetic Variations.

Thomas M. Keane has contributed to numerous publications with frequent appearances in the following venues:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nucleic Acids Research
  • GigaScience
  • Bioinformatics
  • Nature Communications

Recent papers authored or co-authored by Keane include:

  • "Twelve years of SAMtools and BCFtools", 2021, in GigaScience
  • "HTSlib: C library for reading/writing high-throughput sequencing data", 2021, in GigaScience
  • "GA4GH: International policies and standards for data sharing across genomic research and healthcare", 2021, in Cell Genomics
  • "The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity", 2024, in Nucleic Acids Research
  • "The European Genome-phenome Archive in 2021", 2021, in Nucleic Acids Research

Among frequent co-authors collaborating with Thomas M. Keane are:

  • Mallory Freeberg
  • David J. Adams
  • Robert M. Davies
  • Jingtao Lilue
  • Helen Parkinson

This body of work demonstrates involvement in both computational and experimental approaches within genetics and molecular biology, with engagement in the development and maintenance of key bioinformatics tools and genomic data sharing frameworks.

Best Publications

  • A global reference for human genetic variation.

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • An integrated map of genetic variation from 1,092 human genomes

    Goncalo R Abecasis;Adam Auton;Lisa D Brooks

  • Table S2: Trans-factors and trinucleotide repeat instability Trans-factor

    Arturo López Castel;John D Cleary;Christopher E Pearson

  • Twelve years of SAMtools and BCFtools.

    Petr Danecek;James K Bonfield;Jennifer Liddle;John Marshall

  • Mouse genomic variation and its effect on phenotypes and gene regulation

    T M Keane;L Goodstadt;P Danecek;M A White

  • Mapping copy number variation by population-scale genome sequencing

    Ryan E. Mills;Klaudia Walter;Chip Stewart;Robert E. Handsaker

  • Assessment of methods for amino acid matrix selection and their use on empirical data shows that ad hoc assumptions for choice of matrix are not justified

    Thomas M Keane;Christopher J Creevey;Melissa M Pentony;Thomas J Naughton

  • A global reference for human genetic variation

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • A map of human genome variation from population-scale sequencing

    Richard M. Durbin;David L. Altshuler;Gonçalo R. Abecasis;David R. Bentley

  • A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains

    Michelle M Simon;Simon Greenaway;Jacqueline K White;Helmut Fuchs

  • ABACAS: algorithm-based automatic contiguation of assembled sequences

    Samuel A. Assefa;Thomas M. Keane;Thomas D. Otto;Chris I Newbold

  • New insights into the blood-stage transcriptome of Plasmodium falciparum using RNA-Seq

    Thomas D. Otto;Daniel Wilinski;Sammy Assefa;Thomas M. Keane

  • The genome of the simian and human malaria parasite Plasmodium knowlesi

    A. Pain;U. Böhme;A. E. Berry;K. Mungall

  • Assessing the gene space in draft genomes

    Genis Parra;Keith Bradnam;Zemin Ning;Thomas Keane

  • The UK10K project identifies rare variants in health and disease

    Klaudia Walter;Josine L. Min;Jie Huang;Lucy Crooks

  • POT1 loss-of-function variants predispose to familial melanoma

    Carla Daniela Robles-Espinoza;Mark Harland;Andrew J Ramsay;Lauren G Aoude

  • Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

    Jie Huang;Bryan Howie;Shane McCarthy;Yasin Memari

  • Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

    Miriam Schmidts;Yuqing Hou;Claudio R. Cortes;Dorus A. Mans

  • The mutational landscapes of genetic and chemical models of Kras -driven lung cancer

    Peter M. K. Westcott;Kyle D. Halliwill;Minh D. To;Mamunur Rashid

  • Sequence-based characterization of structural variation in the mouse genome.

    Binnaz Yalcin;Kim Wong;Avigail Agam;Avigail Agam;Martin Goodson

Frequent Co-Authors

David J. Adams
David J. Adams Wellcome Sanger Institute
Paul Flicek
Paul Flicek The Jackson Laboratory
Richard Durbin
Richard Durbin University of Cambridge
Jonathan Flint
Jonathan Flint University of California, Los Angeles
Duncan T. Odom
Duncan T. Odom University of Cambridge
Michael A. Quail
Michael A. Quail Wellcome Sanger Institute
Mark Gerstein
Mark Gerstein Yale University
Benedict Paten
Benedict Paten University of California, Santa Cruz
Fengtang Yang
Fengtang Yang Wellcome Sanger Institute
Thomas J. Naughton
Thomas J. Naughton National University of Ireland, Maynooth

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