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Items: 37

1.

Eleven quick tips to build a usable REST API for life sciences.

Tarkowska A, Carvalho-Silva D, Cook CE, Turner E, Finn RD, Yates AD.

PLoS Comput Biol. 2018 Dec 13;14(12):e1006542. doi: 10.1371/journal.pcbi.1006542. eCollection 2018 Dec. No abstract available.

2.

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.

3.

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.

4.

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.

5.

Ensembl Genomes 2018: an integrated omics infrastructure for non-vertebrate species.

Kersey PJ, Allen JE, Allot A, Barba M, Boddu S, Bolt BJ, Carvalho-Silva D, Christensen M, Davis P, Grabmueller C, Kumar N, Liu Z, Maurel T, Moore B, McDowall MD, Maheswari U, Naamati G, Newman V, Ong CK, Paulini M, Pedro H, Perry E, Russell M, Sparrow H, Tapanari E, Taylor K, Vullo A, Williams G, Zadissia A, Olson A, Stein J, Wei S, Tello-Ruiz M, Ware D, Luciani A, Potter S, Finn RD, Urban M, Hammond-Kosack KE, Bolser DM, De Silva N, Howe KL, Langridge N, Maslen G, Staines DM, Yates A.

Nucleic Acids Res. 2018 Jan 4;46(D1):D802-D808. doi: 10.1093/nar/gkx1011.

6.

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.

7.

Ensembl 2017.

Aken BL, Achuthan P, Akanni W, Amode MR, Bernsdorff F, Bhai J, Billis K, Carvalho-Silva D, Cummins C, Clapham P, Gil L, Girón CG, Gordon L, Hourlier T, Hunt SE, Janacek SH, Juettemann T, Keenan S, Laird MR, Lavidas I, Maurel T, McLaren W, Moore B, Murphy DN, Nag R, Newman V, Nuhn M, Ong CK, Parker A, Patricio M, Riat HS, Sheppard D, Sparrow H, Taylor K, Thormann A, Vullo A, Walts B, Wilder SP, Zadissa A, Kostadima M, Martin FJ, Muffato M, Perry E, Ruffier M, Staines DM, Trevanion SJ, Cunningham F, Yates A, Zerbino DR, Flicek P.

Nucleic Acids Res. 2017 Jan 4;45(D1):D635-D642. doi: 10.1093/nar/gkw1104. Epub 2016 Nov 28.

8.

Ensembl 2016.

Yates A, Akanni W, Amode MR, Barrell D, Billis K, Carvalho-Silva D, Cummins C, Clapham P, Fitzgerald S, Gil L, Girón CG, Gordon L, Hourlier T, Hunt SE, Janacek SH, Johnson N, Juettemann T, Keenan S, Lavidas I, Martin FJ, Maurel T, McLaren W, Murphy DN, Nag R, Nuhn M, Parker A, Patricio M, Pignatelli M, Rahtz M, Riat HS, Sheppard D, Taylor K, Thormann A, Vullo A, Wilder SP, Zadissa A, Birney E, Harrow J, Muffato M, Perry E, Ruffier M, Spudich G, Trevanion SJ, Cunningham F, Aken BL, Zerbino DR, Flicek P.

Nucleic Acids Res. 2016 Jan 4;44(D1):D710-6. doi: 10.1093/nar/gkv1157. Epub 2015 Dec 19.

9.

Ensembl Genomes 2016: more genomes, more complexity.

Kersey PJ, Allen JE, Armean I, Boddu S, Bolt BJ, Carvalho-Silva D, Christensen M, Davis P, Falin LJ, Grabmueller C, Humphrey J, Kerhornou A, Khobova J, Aranganathan NK, Langridge N, Lowy E, McDowall MD, Maheswari U, Nuhn M, Ong CK, Overduin B, Paulini M, Pedro H, Perry E, Spudich G, Tapanari E, Walts B, Williams G, Tello-Ruiz M, Stein J, Wei S, Ware D, Bolser DM, Howe KL, Kulesha E, Lawson D, Maslen G, Staines DM.

Nucleic Acids Res. 2016 Jan 4;44(D1):D574-80. doi: 10.1093/nar/gkv1209. Epub 2015 Nov 17.

10.

The pig X and Y Chromosomes: structure, sequence, and evolution.

Skinner BM, Sargent CA, Churcher C, Hunt T, Herrero J, Loveland JE, Dunn M, Louzada S, Fu B, Chow W, Gilbert J, Austin-Guest S, Beal K, Carvalho-Silva D, Cheng W, Gordon D, Grafham D, Hardy M, Harley J, Hauser H, Howden P, Howe K, Lachani K, Ellis PJ, Kelly D, Kerry G, Kerwin J, Ng BL, Threadgold G, Wileman T, Wood JM, Yang F, Harrow J, Affara NA, Tyler-Smith C.

Genome Res. 2016 Jan;26(1):130-9. doi: 10.1101/gr.188839.114. Epub 2015 Nov 11.

11.

Ensembl 2015.

Cunningham F, Amode MR, Barrell D, Beal K, Billis K, Brent S, Carvalho-Silva D, Clapham P, Coates G, Fitzgerald S, Gil L, Girón CG, Gordon L, Hourlier T, Hunt SE, Janacek SH, Johnson N, Juettemann T, Kähäri AK, Keenan S, Martin FJ, Maurel T, McLaren W, Murphy DN, Nag R, Overduin B, Parker A, Patricio M, Perry E, Pignatelli M, Riat HS, Sheppard D, Taylor K, Thormann A, Vullo A, Wilder SP, Zadissa A, Aken BL, Birney E, Harrow J, Kinsella R, Muffato M, Ruffier M, Searle SM, Spudich G, Trevanion SJ, Yates A, Zerbino DR, Flicek P.

Nucleic Acids Res. 2015 Jan;43(Database issue):D662-9. doi: 10.1093/nar/gku1010. Epub 2014 Oct 28.

12.

A linguistically informed autosomal STR survey of human populations residing in the greater Himalayan region.

Kraaijenbrink T, van der Gaag KJ, Zuniga SB, Xue Y, Carvalho-Silva DR, Tyler-Smith C, Jobling MA, Parkin EJ, Su B, Shi H, Xiao CJ, Tang WR, Kashyap VK, Trivedi R, Sitalaximi T, Banerjee J, Karma Tshering of Gaselô, Tuladhar NM, Opgenort JR, van Driem GL, Barbujani G, de Knijff P.

PLoS One. 2014 Mar 10;9(3):e91534. doi: 10.1371/journal.pone.0091534. eCollection 2014.

13.

Gene conversion violates the stepwise mutation model for microsatellites in y-chromosomal palindromic repeats.

Balaresque P, King TE, Parkin EJ, Heyer E, Carvalho-Silva D, Kraaijenbrink T, de Knijff P, Tyler-Smith C, Jobling MA.

Hum Mutat. 2014 May;35(5):609-17. doi: 10.1002/humu.22542.

14.

Ensembl 2014.

Flicek P, Amode MR, Barrell D, Beal K, Billis K, Brent S, Carvalho-Silva D, Clapham P, Coates G, Fitzgerald S, Gil L, Girón CG, Gordon L, Hourlier T, Hunt S, Johnson N, Juettemann T, Kähäri AK, Keenan S, Kulesha E, Martin FJ, Maurel T, McLaren WM, Murphy DN, Nag R, Overduin B, Pignatelli M, Pritchard B, Pritchard E, Riat HS, Ruffier M, Sheppard D, Taylor K, Thormann A, Trevanion SJ, Vullo A, Wilder SP, Wilson M, Zadissa A, Aken BL, Birney E, Cunningham F, Harrow J, Herrero J, Hubbard TJ, Kinsella R, Muffato M, Parker A, Spudich G, Yates A, Zerbino DR, Searle SM.

Nucleic Acids Res. 2014 Jan;42(Database issue):D749-55. doi: 10.1093/nar/gkt1196. Epub 2013 Dec 6.

15.

Structural and functional annotation of the porcine immunome.

Dawson HD, Loveland JE, Pascal G, Gilbert JG, Uenishi H, Mann KM, Sang Y, Zhang J, Carvalho-Silva D, Hunt T, Hardy M, Hu Z, Zhao SH, Anselmo A, Shinkai H, Chen C, Badaoui B, Berman D, Amid C, Kay M, Lloyd D, Snow C, Morozumi T, Cheng RP, Bystrom M, Kapetanovic R, Schwartz JC, Kataria R, Astley M, Fritz E, Steward C, Thomas M, Wilming L, Toki D, Archibald AL, Bed'Hom B, Beraldi D, Huang TH, Ait-Ali T, Blecha F, Botti S, Freeman TC, Giuffra E, Hume DA, Lunney JK, Murtaugh MP, Reecy JM, Harrow JL, Rogel-Gaillard C, Tuggle CK.

BMC Genomics. 2013 May 15;14:332. doi: 10.1186/1471-2164-14-332.

16.

Ensembl 2013.

Flicek P, Ahmed I, Amode MR, Barrell D, Beal K, Brent S, Carvalho-Silva D, Clapham P, Coates G, Fairley S, Fitzgerald S, Gil L, García-Girón C, Gordon L, Hourlier T, Hunt S, Juettemann T, Kähäri AK, Keenan S, Komorowska M, Kulesha E, Longden I, Maurel T, McLaren WM, Muffato M, Nag R, Overduin B, Pignatelli M, Pritchard B, Pritchard E, Riat HS, Ritchie GR, Ruffier M, Schuster M, Sheppard D, Sobral D, Taylor K, Thormann A, Trevanion S, White S, Wilder SP, Aken BL, Birney E, Cunningham F, Dunham I, Harrow J, Herrero J, Hubbard TJ, Johnson N, Kinsella R, Parker A, Spudich G, Yates A, Zadissa A, Searle SM.

Nucleic Acids Res. 2013 Jan;41(Database issue):D48-55. doi: 10.1093/nar/gks1236. Epub 2012 Nov 30.

17.

Analyses of pig genomes provide insight into porcine demography and evolution.

Groenen MA, Archibald AL, Uenishi H, Tuggle CK, Takeuchi Y, Rothschild MF, Rogel-Gaillard C, Park C, Milan D, Megens HJ, Li S, Larkin DM, Kim H, Frantz LA, Caccamo M, Ahn H, Aken BL, Anselmo A, Anthon C, Auvil L, Badaoui B, Beattie CW, Bendixen C, Berman D, Blecha F, Blomberg J, Bolund L, Bosse M, Botti S, Bujie Z, Bystrom M, Capitanu B, Carvalho-Silva D, Chardon P, Chen C, Cheng R, Choi SH, Chow W, Clark RC, Clee C, Crooijmans RP, Dawson HD, Dehais P, De Sapio F, Dibbits B, Drou N, Du ZQ, Eversole K, Fadista J, Fairley S, Faraut T, Faulkner GJ, Fowler KE, Fredholm M, Fritz E, Gilbert JG, Giuffra E, Gorodkin J, Griffin DK, Harrow JL, Hayward A, Howe K, Hu ZL, Humphray SJ, Hunt T, Hornshøj H, Jeon JT, Jern P, Jones M, Jurka J, Kanamori H, Kapetanovic R, Kim J, Kim JH, Kim KW, Kim TH, Larson G, Lee K, Lee KT, Leggett R, Lewin HA, Li Y, Liu W, Loveland JE, Lu Y, Lunney JK, Ma J, Madsen O, Mann K, Matthews L, McLaren S, Morozumi T, Murtaugh MP, Narayan J, Nguyen DT, Ni P, Oh SJ, Onteru S, Panitz F, Park EW, Park HS, Pascal G, Paudel Y, Perez-Enciso M, Ramirez-Gonzalez R, Reecy JM, Rodriguez-Zas S, Rohrer GA, Rund L, Sang Y, Schachtschneider K, Schraiber JG, Schwartz J, Scobie L, Scott C, Searle S, Servin B, Southey BR, Sperber G, Stadler P, Sweedler JV, Tafer H, Thomsen B, Wali R, Wang J, Wang J, White S, Xu X, Yerle M, Zhang G, Zhang J, Zhang J, Zhao S, Rogers J, Churcher C, Schook LB.

Nature. 2012 Nov 15;491(7424):393-8. doi: 10.1038/nature11622.

18.

A systematic survey of loss-of-function variants in human protein-coding genes.

MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, Rosenfeld JA, Fromer M, Jin M, Mu XJ, Khurana E, Ye K, Kay M, Saunders GI, Suner MM, Hunt T, Barnes IH, Amid C, Carvalho-Silva DR, Bignell AH, Snow C, Yngvadottir B, Bumpstead S, Cooper DN, Xue Y, Romero IG; 1000 Genomes Project Consortium, Wang J, Li Y, Gibbs RA, McCarroll SA, Dermitzakis ET, Pritchard JK, Barrett JC, Harrow J, Hurles ME, Gerstein MB, Tyler-Smith C.

Science. 2012 Feb 17;335(6070):823-8. doi: 10.1126/science.1215040. Erratum in: Science. 2012 Apr 20;336(6079):296.

19.

Ensembl 2012.

Flicek P, Amode MR, Barrell D, Beal K, Brent S, Carvalho-Silva D, Clapham P, Coates G, Fairley S, Fitzgerald S, Gil L, Gordon L, Hendrix M, Hourlier T, Johnson N, Kähäri AK, Keefe D, Keenan S, Kinsella R, Komorowska M, Koscielny G, Kulesha E, Larsson P, Longden I, McLaren W, Muffato M, Overduin B, Pignatelli M, Pritchard B, Riat HS, Ritchie GR, Ruffier M, Schuster M, Sobral D, Tang YA, Taylor K, Trevanion S, Vandrovcova J, White S, Wilson M, Wilder SP, Aken BL, Birney E, Cunningham F, Dunham I, Durbin R, Fernández-Suarez XM, Harrow J, Herrero J, Hubbard TJ, Parker A, Proctor G, Spudich G, Vogel J, Yates A, Zadissa A, Searle SM.

Nucleic Acids Res. 2012 Jan;40(Database issue):D84-90. doi: 10.1093/nar/gkr991. Epub 2011 Nov 15.

20.

Genomic complexity of the Y-STR DYS19: inversions, deletions and founder lineages carrying duplications.

Balaresque P, Parkin EJ, Roewer L, Carvalho-Silva DR, Mitchell RJ, van Oorschot RA, Henke J, Stoneking M, Nasidze I, Wetton J, de Knijff P, Tyler-Smith C, Jobling MA.

Int J Legal Med. 2009 Jan;123(1):15-23. doi: 10.1007/s00414-008-0253-3. Epub 2008 Jun 14.

21.

Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis.

Balaresque P, Bowden GR, Parkin EJ, Omran GA, Heyer E, Quintana-Murci L, Roewer L, Stoneking M, Nasidze I, Carvalho-Silva DR, Tyler-Smith C, de Knijff P, Jobling MA.

Hum Mutat. 2008 Oct;29(10):1171-80. doi: 10.1002/humu.20757.

22.
23.

Maternal footprints of Southeast Asians in North India.

Thangaraj K, Chaubey G, Kivisild T, Selvi Rani D, Singh VK, Ismail T, Carvalho-Silva D, Metspalu M, Bhaskar LV, Reddy AG, Chandra S, Pande V, Prathap Naidu B, Adarsh N, Verma A, Jyothi IA, Mallick CB, Shrivastava N, Devasena R, Kumari B, Singh AK, Dwivedi SK, Singh S, Rao G, Gupta P, Sonvane V, Kumari K, Basha A, Bhargavi KR, Lalremruata A, Gupta AK, Kaur G, Reddy KK, Rao AP, Villems R, Tyler-Smith C, Singh L.

Hum Hered. 2008;66(1):1-9. doi: 10.1159/000114160. Epub 2008 Jan 28.

24.

Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.

Jobling MA, Lo IC, Turner DJ, Bowden GR, Lee AC, Xue Y, Carvalho-Silva D, Hurles ME, Adams SM, Chang YM, Kraaijenbrink T, Henke J, Guanti G, McKeown B, van Oorschot RA, Mitchell RJ, de Knijff P, Tyler-Smith C, Parkin EJ.

Hum Mol Genet. 2007 Feb 1;16(3):307-16. Epub 2006 Dec 22.

25.

Nepalese populations show no association between the distribution of malaria and protective alleles.

Caetano CP, Kraaijenbrink T, Tuladhar NM, van Driem GL, de Knijff P, Tyler-Smith C, Carvalho-Silva DR.

J Mol Genet Med. 2006 Nov;2(1):101-106.

26.

A shared Y-chromosomal heritage between Muslims and Hindus in India.

Gutala R, Carvalho-Silva DR, Jin L, Yngvadottir B, Avadhanula V, Nanne K, Singh L, Chakraborty R, Tyler-Smith C.

Hum Genet. 2006 Nov;120(4):543-51. Epub 2006 Sep 2.

27.

Ancient Indian roots?

Carvalho-Silva DR, Zerjal T, Tyler-Smith C.

J Biosci. 2006 Mar;31(1):1-2. No abstract available.

28.

Y chromosome diversity in Brazilians: switching perspectives from slow to fast evolving markers.

Carvalho-Silva DR, Tarazona-Santos E, Rocha J, Pena SD, Santos FR.

Genetica. 2006 Jan;126(1-2):251-60.

PMID:
16502101
29.

Genetic variation of the Y chromosome in Chibcha-speaking Amerindians of Costa Rica and Panama.

Ruiz-Narváez EA, Santos FR, Carvalho-Silva DR, Azofeifa J, Barrantes R, Pena SD.

Hum Biol. 2005 Feb;77(1):71-91.

PMID:
16114818
30.

Autosomal location of genes from the conserved mammalian X in the platypus (Ornithorhynchus anatinus): implications for mammalian sex chromosome evolution.

Waters PD, Delbridge ML, Deakin JE, El-Mogharbel N, Kirby PJ, Carvalho-Silva DR, Graves JA.

Chromosome Res. 2005;13(4):401-10.

PMID:
15973504
31.

Molecular characterization and evolution of X and Y-borne ATRX homologues in American marsupials.

Carvalho-Silva DR, O'Neill RJ, Brown JD, Huynh K, Waters PD, Pask AJ, Delbridge ML, Graves JA.

Chromosome Res. 2004;12(8):795-804.

PMID:
15702418
32.

Genetic instability in EBV-transformed lymphoblastoid cell lines.

Mohyuddin A, Ayub Q, Siddiqi S, Carvalho-Silva DR, Mazhar K, Rehman S, Firasat S, Dar A, Tyler-Smith C, Mehdi SQ.

Biochim Biophys Acta. 2004 Jan 5;1670(1):81-3.

PMID:
14729144
33.

Isolation of chromosomal regions controlling intersex development in a marsupial.

Santucciu C, Grützner F, Carvalho-Silva DR, Graves JA.

Cytogenet Genome Res. 2003;101(3-4):224-8.

PMID:
14684987
34.

Genetic differentiation in South Amerindians is related to environmental and cultural diversity: evidence from the Y chromosome.

Tarazona-Santos E, Carvalho-Silva DR, Pettener D, Luiselli D, De Stefano GF, Labarga CM, Rickards O, Tyler-Smith C, Pena SD, Santos FR.

Am J Hum Genet. 2001 Jun;68(6):1485-96. Epub 2001 May 15.

35.

The phylogeography of Brazilian Y-chromosome lineages.

Carvalho-Silva DR, Santos FR, Rocha J, Pena SD.

Am J Hum Genet. 2001 Jan;68(1):281-6. Epub 2000 Nov 22.

36.
37.

Divergent human Y-chromosome microsatellite evolution rates.

Carvalho-Silva DR, Santos FR, Hutz MH, Salzano FM, Pena SD.

J Mol Evol. 1999 Aug;49(2):204-14.

PMID:
10441672

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