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Items: 1 to 20 of 168

1.

eFORGE v2.0: updated analysis of cell type-specific signal in epigenomic data.

Breeze CE, Reynolds AP, van Dongen J, Dunham I, Lazar J, Neph S, Vierstra J, Bourque G, Teschendorff AE, Stamatoyannopoulos JA, Beck S.

Bioinformatics. 2019 Jun 4. pii: btz456. doi: 10.1093/bioinformatics/btz456. [Epub ahead of print]

PMID:
31161210
2.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA.

Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.

PMID:
30982612
3.

Applications of machine learning in drug discovery and development.

Vamathevan J, Clark D, Czodrowski P, Dunham I, Ferran E, Lee G, Li B, Madabhushi A, Shah P, Spitzer M, Zhao S.

Nat Rev Drug Discov. 2019 Jun;18(6):463-477. doi: 10.1038/s41573-019-0024-5. Review.

4.

GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals.

Iotchkova V, Ritchie GRS, Geihs M, Morganella S, Min JL, Walter K, Timpson NJ; UK10K Consortium, Dunham I, Birney E, Soranzo N.

Nat Genet. 2019 Feb;51(2):343-353. doi: 10.1038/s41588-018-0322-6. Epub 2019 Jan 28.

PMID:
30692680
5.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.

Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ; UK10K consortium, Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bønnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B.

Nat Commun. 2019 Jan 21;10(1):357. doi: 10.1038/s41467-018-07863-x.

6.

Open Targets Platform: new developments and updates two years on.

Carvalho-Silva D, Pierleoni A, Pignatelli M, Ong C, Fumis L, Karamanis N, Carmona M, Faulconbridge A, Hercules A, McAuley E, Miranda A, Peat G, Spitzer M, Barrett J, Hulcoop DG, Papa E, Koscielny G, Dunham I.

Nucleic Acids Res. 2019 Jan 8;47(D1):D1056-D1065. doi: 10.1093/nar/gky1133.

7.

Ten simple rules for delivering live distance training in bioinformatics across the globe using webinars.

Carvalho-Silva D, Garcia L, Morgan SL, Brooksbank C, Dunham I.

PLoS Comput Biol. 2018 Nov 15;14(11):e1006419. doi: 10.1371/journal.pcbi.1006419. eCollection 2018 Nov. No abstract available.

8.

The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers.

Sondka Z, Bamford S, Cole CG, Ward SA, Dunham I, Forbes SA.

Nat Rev Cancer. 2018 Nov;18(11):696-705. doi: 10.1038/s41568-018-0060-1. Review.

9.

Uncovering new disease indications for G-protein coupled receptors and their endogenous ligands.

Freudenberg JM, Dunham I, Sanseau P, Rajpal DK.

BMC Bioinformatics. 2018 Oct 1;19(1):345. doi: 10.1186/s12859-018-2392-y.

10.

Human genes: Time to follow the roads less traveled?

Dunham I.

PLoS Biol. 2018 Sep 26;16(9):e3000034. doi: 10.1371/journal.pbio.3000034. eCollection 2018 Sep.

11.

Designing an intuitive web application for drug discovery scientists.

Karamanis N, Pignatelli M, Carvalho-Silva D, Rowland F, Cham JA, Dunham I.

Drug Discov Today. 2018 Jun;23(6):1169-1174. doi: 10.1016/j.drudis.2018.01.032. Epub 2018 Jan 11.

12.

Transcription Factor Activities Enhance Markers of Drug Sensitivity in Cancer.

Garcia-Alonso L, Iorio F, Matchan A, Fonseca N, Jaaks P, Peat G, Pignatelli M, Falcone F, Benes CH, Dunham I, Bignell G, McDade SS, Garnett MJ, Saez-Rodriguez J.

Cancer Res. 2018 Feb 1;78(3):769-780. doi: 10.1158/0008-5472.CAN-17-1679. Epub 2017 Dec 11.

13.

The Human Cell Atlas.

Regev A, Teichmann SA, Lander ES, Amit I, Benoist C, Birney E, Bodenmiller B, Campbell P, Carninci P, Clatworthy M, Clevers H, Deplancke B, Dunham I, Eberwine J, Eils R, Enard W, Farmer A, Fugger L, Göttgens B, Hacohen N, Haniffa M, Hemberg M, Kim S, Klenerman P, Kriegstein A, Lein E, Linnarsson S, Lundberg E, Lundeberg J, Majumder P, Marioni JC, Merad M, Mhlanga M, Nawijn M, Netea M, Nolan G, Pe'er D, Phillipakis A, Ponting CP, Quake S, Reik W, Rozenblatt-Rosen O, Sanes J, Satija R, Schumacher TN, Shalek A, Shapiro E, Sharma P, Shin JW, Stegle O, Stratton M, Stubbington MJT, Theis FJ, Uhlen M, van Oudenaarden A, Wagner A, Watt F, Weissman J, Wold B, Xavier R, Yosef N; Human Cell Atlas Meeting Participants.

Elife. 2017 Dec 5;6. pii: e27041. doi: 10.7554/eLife.27041.

14.

Uncovering novel repositioning opportunities using the Open Targets platform.

Khaladkar M, Koscielny G, Hasan S, Agarwal P, Dunham I, Rajpal D, Sanseau P.

Drug Discov Today. 2017 Dec;22(12):1800-1807. doi: 10.1016/j.drudis.2017.09.007. Epub 2017 Sep 14. Review.

PMID:
28919242
15.

In silico prediction of novel therapeutic targets using gene-disease association data.

Ferrero E, Dunham I, Sanseau P.

J Transl Med. 2017 Aug 29;15(1):182. doi: 10.1186/s12967-017-1285-6.

16.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.

Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O'Rahilly S, Zeggini E, Barroso I, Farooqi IS; Understanding Society Scientific Group; EPIC-CVD Consortium; UK10K Consortium.

Sci Rep. 2017 Jun 29;7(1):4394. doi: 10.1038/s41598-017-03054-8.

17.

Literature evidence in open targets - a target validation platform.

Kafkas Ş, Dunham I, McEntyre J.

J Biomed Semantics. 2017 Jun 6;8(1):20. doi: 10.1186/s13326-017-0131-3.

18.

Open Targets: a platform for therapeutic target identification and validation.

Koscielny G, An P, Carvalho-Silva D, Cham JA, Fumis L, Gasparyan R, Hasan S, Karamanis N, Maguire M, Papa E, Pierleoni A, Pignatelli M, Platt T, Rowland F, Wankar P, Bento AP, Burdett T, Fabregat A, Forbes S, Gaulton A, Gonzalez CY, Hermjakob H, Hersey A, Jupe S, Kafkas Ş, Keays M, Leroy C, Lopez FJ, Magarinos MP, Malone J, McEntyre J, Munoz-Pomer Fuentes A, O'Donovan C, Papatheodorou I, Parkinson H, Palka B, Paschall J, Petryszak R, Pratanwanich N, Sarntivijal S, Saunders G, Sidiropoulos K, Smith T, Sondka Z, Stegle O, Tang YA, Turner E, Vaughan B, Vrousgou O, Watkins X, Martin MJ, Sanseau P, Vamathevan J, Birney E, Barrett J, Dunham I.

Nucleic Acids Res. 2017 Jan 4;45(D1):D985-D994. doi: 10.1093/nar/gkw1055. Epub 2016 Nov 29.

19.

eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data.

Breeze CE, Paul DS, van Dongen J, Butcher LM, Ambrose JC, Barrett JE, Lowe R, Rakyan VK, Iotchkova V, Frontini M, Downes K, Ouwehand WH, Laperle J, Jacques PÉ, Bourque G, Bergmann AK, Siebert R, Vellenga E, Saeed S, Matarese F, Martens JHA, Stunnenberg HG, Teschendorff AE, Herrero J, Birney E, Dunham I, Beck S.

Cell Rep. 2016 Nov 15;17(8):2137-2150. doi: 10.1016/j.celrep.2016.10.059.

20.

Linking rare and common disease: mapping clinical disease-phenotypes to ontologies in therapeutic target validation.

Sarntivijai S, Vasant D, Jupp S, Saunders G, Bento AP, Gonzalez D, Betts J, Hasan S, Koscielny G, Dunham I, Parkinson H, Malone J.

J Biomed Semantics. 2016 Mar 23;7:8. doi: 10.1186/s13326-016-0051-7. eCollection 2016.

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