Thomas A. Down

Wellcome Sanger Institute — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

50h-index20.7kcitations81works0.02yr avg
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Research Topics

Epigenetics and DNA Methylation(28), Genomics and Chromatin Dynamics(25), Genomics and Phylogenetic Studies(16), RNA and protein synthesis mechanisms(15), RNA modifications and cancer(12)

Publications79 total

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
Nature Communications·2019· 39 citedOpen Access
Stable Caenorhabditis elegans chromatin domains separate broadly expressed and developmentally regulated genes.
Apollo (University of Cambridge)·2016Open Access
Stable <i>Caenorhabditis elegans</i> chromatin domains separate broadly expressed and developmentally regulated genes
Proceedings of the National Academy of Sciences·2016· 110 cited
Stable <i>C. elegans</i> chromatin domains separate broadly expressed and developmentally regulated genes
2016· 4 citedOpen Access
LD relationship for &lt;i&gt;FTO&lt;/i&gt; Association SNPs and rs7202116.
Figshare·2015Open Access
WormBase 2016: expanding to enable helminth genomic research
Nucleic Acids Research·2015· 382 citedOpen Access
The UK10K project identifies rare variants in health and disease
Nature·2015· 1.2k citedOpen Access
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
Nature Communications·2015· 374 citedOpen Access
An interactive genome browser of association results from the UK10K cohorts project
Bioinformatics·2015· 14 citedOpen Access
Whole-genome sequence-based analysis of thyroid function
Nature Communications·2015· 104 citedOpen Access
The UK10K project identifies rare variants in health and disease
Kölner Universitäts PublikationsServer (Universität zu Köln)·2015· 299 citedOpen Access
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
Nature Communications·2014· 74 citedOpen Access
bionode-bbi 0.1.1
Zenodo (CERN European Organization for Nuclear Research)·2014Open Access
A Comparison of Peak Callers Used for DNase-Seq Data
PLoS ONE·2014· 82 citedOpen Access
A Comparison of Peak Callers Used for DNase-seq Data
2014· 4 citedOpen Access
Extreme HOT regions are CpG-dense promoters in <i>C. elegans</i> and humans
Genome Research·2014· 68 citedOpen Access
Synergistic Mechanisms of DNA Demethylation during Transition to Ground-State Pluripotency
Stem Cell Reports·2013· 123 citedOpen Access
Binding of TFIIIC to SINE Elements Controls the Relocation of Activity-Dependent Neuronal Genes to Transcription Factories
PLoS Genetics·2013· 79 citedOpen Access
Chromatin Accessibility Data Sets Show Bias Due to Sequence Specificity of the DNase I Enzyme
PLoS ONE·2013· 68 citedOpen Access
The epigenetic regulator PLZF represses L1 retrotransposition in germ and progenitor cells
The EMBO Journal·2013· 44 citedOpen Access
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Frequent Co-authors

Tim Hubbard(17), Vardhman K. Rakyan(15), Stephan Beck(10), Ewan Birney(10), Richard Durbin(9), Paul Flicek(9), Petr Danecek(8), Guy Coates(7), Tony Cox(6), David K. Jackson(6), Yasin Memari(6), Shane McCarthy(6), Inês Barroso(6), Ian Dunham(6), Klaudia Walter(5), Josine L. Min(5), Lucy Crooks(5), Marta Futema(5), Valentina Iotchkova(5), Jeffrey C. Barrett(5)