Implementation of individualised polygenic risk score analysis: a test case of a family of four

Transferability of genetic risk scores in African populations
Abram B. Kamiza, Sounkou M. Toure, Marijana Vujkovic, Tafadzwa Machipisa, Opeyemi S. Soremekun, Christopher Kintu, Manuel Corpas, Fraser Pirie, Elizabeth Young, Dipender Gill, Manjinder S. Sandhu, Pontiano Kaleebu, Moffat Nyirenda, Ayesha A. Motala, Tinashe Chikowore and Segun Fatumo 2022. Transferability of genetic risk scores in African populations. Nature Medicine. https://doi.org/10.1038/s41591-022-01835-x

A Key Action Plan for Education in a Global Crisis
Soriano, V., Cordona, P. and Corpas, M. 2021. A Key Action Plan for Education in a Global Crisis. in: Burgos, D., Tlili, A. and Tabacco, A. (ed.) Radical Solutions for Education in a Crisis Context Springer. pp. 263-272

Whole Genome Interpretation for a Family of Five
Corpas, M., Megy, K., Mistry, V., Metastasio, A. and Lehmann, E. 2021. Whole Genome Interpretation for a Family of Five. Frontiers in Genetics. 12 535123. https://doi.org/10.3389/fgene.2021.535123

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases
Bueno, A., Rodríguez-López, R., Reyes-Palomares, A., Rojano, E., Corpas, M., Nevado, J., Lapunzina, P., Sánchez-Jiménez, F. and Ranea, J.A.G. 2018. Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases. European Journal of Human Genetics. 26, pp. 1451-1461. https://doi.org/10.1038/s41431-018-0139-x

A FAIR guide for data providers to maximise sharing of human genomic data
Corpas, M., Kovalevskaya, N.V., McMurray, A. and Nielsen, F.G.G. 2018. A FAIR guide for data providers to maximise sharing of human genomic data. PLOS Computational Biology. 14 (3) e1005873. https://doi.org/10.1371/journal.pcbi.1005873

Personal Genome Project UK (PGP-UK): A research and citizen science hybrid project in support of personalized medicine
Beck, S., Berner, A.M., Bignell, G., Bond, M., Callanan, M.J., Chervova, O., Conde, L., Corpas, M., Ecker, S., Elliott, H.R., Fioramonti, S.A., Flanagan, A.M., Gaentzsch, R., Graham, D., Gribbin, D., Guerra-Assunção, J.A., Hamoudi, R., Harding, V., Harrison, P.L., Herrero, J., Hofmann, J., Jones, E., Khan, S., Kaye, J., Kerr, P., Libertini, E., Marks, L., McCormack, L., Moghul, I., Pontikos, N., Rajanayagam, S., Rana, K., Semega-Janneh, M., Smith, C.P., Strom, L., Umur, S., Webster, A.P., Williams, E.H., Wint, K. and Wood, J.N. 2018. Personal Genome Project UK (PGP-UK): A research and citizen science hybrid project in support of personalized medicine. BMC Medical Genomics. 11 108. https://doi.org/10.1186/s12920-018-0423-1

APPLaUD: Access for patients and participants to individual level uninterpreted genomic data
Thorogood, A., Bobe, J., Prainsack, B., Middleton, A., Scott, E., Nelson, S., Corpas, M., Bonhomme, N., Rodriguez, L.L., Murtagh, M. and Kleiderman, E. 2018. APPLaUD: Access for patients and participants to individual level uninterpreted genomic data. Human Genomics. 12 7. https://doi.org/10.1186/s40246-018-0139-5

Four simple recommendations to encourage best practices in research software [version 1; referees: awaiting peer review]
Jiménez, R.C., Kuzak, M., Alhamdoosh, M., Barker, M., Batut, B., Borg, M., Capella-Gutierrez, S., Hong, N.C., Cook, M., Corpas, M., Flannery, M., Leyla Garcia, L., Josep Ll. Gelpí, J.L., Simon Gladman, S., Carole Goble, C., González Ferreiro, M., Gonzalez-Beltran, A., Griffin, P.C., Grüning, B., Hagberg, J., Holub, P., Hooft, R., Ison, J., Katz, D.S., Leskošek, B., López Gómez, F., Luis J. Oliveira, L.J., David Mellor, D., Mosbergen, R., Mulder, N., Perez-Riverol, Y., Pergl, R., Pichler, H., Pope, B., Sanz, F., Schneider, M.V., Stodden, V., Suchecki, R., Vařeková, R.S., Talvik, H.-A., Todorov, I., Treloar, A., Tyagi, S., van Gompel, M., Vaughan, D., Via, A., Wang, X., Watson-Haigh, N.S. and Crouch, S. 2017. Four simple recommendations to encourage best practices in research software [version 1; referees: awaiting peer review]. F1000Research. 6 876. https://doi.org/10.12688/f1000research.11407.1

Genome sequencing of the staple food crop white Guinea yam enables the development of a molecular marker for sex determination.
Corpas, M. 2017. Genome sequencing of the staple food crop white Guinea yam enables the development of a molecular marker for sex determination. BMC Biology. 15 86. https://doi.org/10.1186/s12915-017-0419-x

BioCIDER: a Contextualisation InDEx for biological Resources discovery
Horro, C., Cook, M., Attwood, T.K., Brazas, M.D., Hancock, J.M., Palagi, P., Corpas, M. and Jimenez, R. 2017. BioCIDER: a Contextualisation InDEx for biological Resources discovery. Bioinformatics. 33 (16), pp. 2607-2608. https://doi.org/10.1093/bioinformatics/btx213

Systematic identification of phenotypically enriched loci using a patient network of genomic disorders
Reyes-Palomares, A., Bueno, A., Rodríguez-López, R., Medina, M., Sánchez-Jiménez, F., Corpas, M. and Ranea, J.A.G. 2016. Systematic identification of phenotypically enriched loci using a patient network of genomic disorders. BMC Genomics. 17 232. https://doi.org/10.1186/s12864-016-2569-6

Progress on the genome characterisation of D. alata
Corpas, M. 2016. Progress on the genome characterisation of D. alata. Plant and Animal Genome XXIV Conference. Town & Country Resort & Convention Center 09 - 13 Jan 2016

Cutting Edge: Lessons from fraxinus, a crowd-sourced citizen science game in genomics
Rallapalli, G., Players, F., Saunders, D.G., Yoshida, K., Edwards, A., Lugo, C.A., Collin, S., Clavijo, B., Corpas, M., Swarbreck, D., Clark, M., Downie, J.A., Kamoun, S., Cooper, T. and Maclean, D. 2015. Cutting Edge: Lessons from fraxinus, a crowd-sourced citizen science game in genomics. eLife. 4 e07460. https://doi.org/10.7554/elife.07460

GOBLET: The Global Organisation for Bioinformatics Learning, Education and Training
Atwood, T.K., Bongcam-Rudloff, E., Brazas, M.E., Corpas, M., Gaudet, P., Lewitter, F., Mulder, N., Palagi, P.M., Schneider, M.V., van Gelder, C.W.G., Attwood, T.K., Banag, C., Blackford, S., Blatter, M.C., Bongcam-Rudloff, E., Brazas, M.D., Brooksbank, C., Budd, A., Charleston, M., Christoffels, A., Conesa, A., Crowe, M., Davies, A., de Crecy-Lagard, V., De Las Rivas, J., Doyle, M., Edwards, R., Facchiano, A., Fernandes, P., Gaeta, B., Gaudet, P., Heger, A., Herringa, J., Hughes, D., Jimenez, R.C., Kille, P., Korpelainen, E., Kumuthini, J., Lewitter, F., MacLean, D., Martinez, S.A.R., McGrath, A., Michalopoulos, I., Mulder, N., Ouellette, B.F., Palagi, P.M., Pearson, W.R., Qi, W., Romano, P., Rother, K., Sansone, S-A., Schneider, M.V., Schönbach, C., Tastan-Bishop, O., Trelles, O., Twells, R., van Gelder, C.W.G., Via, A., Vriend, G., Warnow, T., Watson, M., Westervelt, N. and Zanzoni, A. 2015. GOBLET: The Global Organisation for Bioinformatics Learning, Education and Training. PLOS Computational Biology. 11 (5) e1004281. https://doi.org/10.1371/journal.pcbi.1004143

Crowdsourced direct-to-consumer genomic analysis of a family quartet
Corpas, M., Valdivia-Granda, W., Torres, N., Greshake, B., Coletta, A., Knaus, A., Harrison, A.P., Cariaso, M., Moran, F., Nielsen, F., Swan, D., Weiss Solís, D.Y., Krawitz, P., Schacherer, F., Schols, P., Yang, H., Borry, P., Glusman, G. and Robinson, P.N. 2015. Crowdsourced direct-to-consumer genomic analysis of a family quartet. BMC Genomics. 16 910. https://doi.org/10.1186/s12864-015-1973-7

A Quick Guide for Building a Successful Bioinformatics Community
Budd, A., Corpas, M., Brazas, M.D., Fuller, J.C., Goecks, J., Mulder, N.J., Michaut, M., Ouellette, B.F.F., Pawlik, A. and Blomberg, N. 2015. A Quick Guide for Building a Successful Bioinformatics Community. PLOS Computational Biology. 11 (2) e1003972. https://doi.org/10.1371/journal.pcbi.1003972

The GOBLET training portal: A global repository of bioinformatics training materials, courses and trainers
Corpas, M., Jimenez, R.C., Bongcam-Rudloff, E., Budd, A., Brazas, M.D., Fernandes, P.L., Gaeta, B., Van Gelder, C., Korpelainen, E., Lewitter, F., McGrath, A., MacLean, D., Palagi, P.M., Rother, K., Taylor, J., Via, A., Watson, M., Schneider, M.V. and Attwood, T.K. 2015. The GOBLET training portal: A global repository of bioinformatics training materials, courses and trainers. Bioinformatics. 31 (1), pp. 140-142. https://doi.org/10.1093/bioinformatics/btu601

Ten Simple Rules for Organizing an Unconference
Budd, A., Dinkel, H., Corpas, M., Fuller, J.C., Rubinat, L., Devos, D.P., Khoueiry, P.H., Förstner, K.U., Georgatos, F., Rowland, F., Sharan, M., Binder, J.X., Grace, T., Traphagen, K., Gristwood, A. and Wood, N.T. 2015. Ten Simple Rules for Organizing an Unconference. PLOS Computational Biology. 11 (1) e1003905. https://doi.org/10.1371/journal.pcbi.1003905

Future opportunities and trends for e-infrastructures and life sciences: Going beyond the grid to enable life science data analysis
Duarte, A.M.S., Psomopoulos, F.E., Blanchet, C., Bonvin, A.M.J.J., Corpas, M., Franc, A., Jimenez, R.C., de Lucas, J.M., Nyrönen, T., Sipos, G. and Suhr, S.B. 2015. Future opportunities and trends for e-infrastructures and life sciences: Going beyond the grid to enable life science data analysis. Frontiers in Genetics. 6 197. https://doi.org/10.3389/fgene.2015.00197

Anatomy of BioJS, an open source community for the life sciences
Yachdav, G., Goldberg, T., Wilzbach, S., Dao, D., Shih, I., Choudhary, S., Crouch, S., Franz, M., García, A., García, L.J., Grüning, B.A., Inupakutika, D., Sillitoe, I., Thanki, A.S., Vieira, B., Villaveces, J.M., Schneider, M.V., Lewis, S., Pettifer, S., Rost, B. and Corpas, M. 2015. Anatomy of BioJS, an open source community for the life sciences. eLife. 2015;4 e07009. https://doi.org/10.7554/elife.07009.001

A quick guide for building a successful bioinformatics community
Budd, A., Corpas, M., Brazas, M.D., Fuller, J.C., Goecks, J., Mulder, N.J., Michaut, M., Ouellette, B.F.F., Pawlik, A. and Blomberg, N. 2015. A quick guide for building a successful bioinformatics community. PLOS Computational Biology. 11 (2) e1003972. https://doi.org/10.1371/journal.pcbi.1003972

DNAContentViewer a BioJS component to visualise GC/AT Content
Thanki, A.S., Caim, S., Corpas, M. and Davey, R.P. 2014. DNAContentViewer a BioJS component to visualise GC/AT Content. F1000Research. 3 54. https://doi.org/10.12688/f1000research.3-54.v1

wigExplorer, a BioJS component to visualise wig data
Thanki, A.S., Jimenez, R.C., Kaithakottil, G.G., Corpas, M. and Davey, R.P. 2014. wigExplorer, a BioJS component to visualise wig data. F1000Research. 3 53. https://doi.org/10.12688/f1000research.3-53.v1

BioJS: An open source standard for biological visualisation - its status in 2014
Corpas, M., Jimenez, R., Carbon, S.J., GarcÍa, A., Garcia, L., Goldberg, T., Gomez, J., Kalderimis, A., Lewis, S.E., Mulvany, I., Pawlik, A., Rowland, F., Salazar, G., Schreiber, F., Sillitoe, I., Spooner, W.H., Thanki, A.S., Villaveces, J.M., Yachdav, G. and Hermjakob, H. 2014. BioJS: An open source standard for biological visualisation - its status in 2014. F1000Research. 3 55. https://doi.org/10.12688/f1000research.3-55.v1

The BioJS article collection of open source components for biological data visualisation.
Corpas, M. 2014. The BioJS article collection of open source components for biological data visualisation. F1000Research. 3 56. https://doi.org/10.12688/f1000research.3-56.v1

The Young PI Buzz: Learning from the Organizers of the Junior Principal Investigator Meeting at ISMB-ECCB 2013
de Ridder, J., Bromberg, Y., Michaut, M., Satagopam, V.P., Corpas, M., Macintyre, G. and Alexandrov, T. 2013. The Young PI Buzz: Learning from the Organizers of the Junior Principal Investigator Meeting at ISMB-ECCB 2013. PLOS Computational Biology. https://doi.org/10.1371/journal.pcbi.1003350

Bioinformatics workflows and web services in systems biology made easy for experimentalists
Jimenez, R.C. and Corpas, M. 2013. Bioinformatics workflows and web services in systems biology made easy for experimentalists. in: Schneider, M.V. (ed.) In Silico Systems Biology Humana Press. pp. 299-310

BioJS: an open source JavaScript framework for biological data visualization
Gómez, J., García, L.J., Salazar, G.A., Villaveces, J., Gore, S., García, A., Martín, M.J., Launay, G., Alcántara, R., Del-Toro, N., Dumousseau, M., Orchard, S., Velankar, S., Hermjakob, H., Zong, C., Ping, P., Corpas, M. and Jiménez, R.C. 2013. BioJS: an open source JavaScript framework for biological data visualization. Bioinformatics. 29 (8), pp. 1103-1104. https://doi.org/10.1093/bioinformatics/btt100

iAnn: an event sharing platform for the life sciences
Jimenez, R.C., Albar, J.P., Bhak, J., Blatter, M.C., Blicher, T., Brazas, M.D., Brooksbank, C., Budd, A., De Las Rivas, J., Dreyer, J., van Driel, M.A., Dunn, M.J., Fernandes, P.L., van Gelder, C.W., Hermjakob, H., Ioannidis, V., Judge, D.P., Kahlem, P., Korpelainen, E., Kraus, H.J., Loveland, J., Mayer, C., McDowall, J., Moran, F., Mulder, N., Nyronen, T., Rother, K., Salazar, G.A., Schneider, R., Via, A., Villaveces, J.M., Yu, P., Schneider, M.V., Attwood, T.K. and Corpas, M. 2013. iAnn: an event sharing platform for the life sciences. Bioinformatics. 29 (15), pp. 1919-1921. https://doi.org/10.1093/bioinformatics/btt306

Crowdsourcing the corpasome
Corpas M 2013. Crowdsourcing the corpasome. Source Code for Biology and Medicine. 8 13. https://doi.org/10.1186/1751-0473-8-13

A genome blogger manifesto
Corpas, M. 2012. A genome blogger manifesto. GigaScience. 1 (1) 15. https://doi.org/10.1186/2047-217x-1-15

A family experience of personal genomics
Corpas, M. 2012. A family experience of personal genomics. Journal of Genetic Counseling. 21 (3), pp. 386-391. https://doi.org/10.1007/s10897-011-9473-7

How not to be a bioinformatician
Corpas, M., Fatumo, S. and Schneider, R. 2012. How not to be a bioinformatician. Source Code for Biology and Medicine. 7 3. https://doi.org/10.1186/1751-0473-7-3

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.
Swaminathan, G.J., Bragin, E., Chatzimichali, E.A., Corpas, M., Bevan, A.P., Wright, C.F., Carter, N.P., Hurles, M.E. and Firth, H.V. 2012. DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. Human Molecular Genetics. 21 (R1), pp. R37-R44. https://doi.org/10.1093/hmg/dds362

Interpretation of genomic copy number variants using DECIPHER
Corpas, M., Bragin, E., Clayton, S., Bevan, P. and Firth, H.V. 2012. Interpretation of genomic copy number variants using DECIPHER. Current Protocols in Human Genetics. Chapter 8:Unit 8.14. https://doi.org/10.1002/0471142905.hg0814s72

Spanish cuts: more economic damage.
Corpas, M. 2012. Spanish cuts: more economic damage. Nature. 487 38. https://doi.org/10.1038/487038d

Bamako 2009 Conference on the Bioinformatics of Infectious Diseases
Corpas, M., Doumbia, S., Gascuel, O. and Mulder, N. 2011. Bamako 2009 Conference on the Bioinformatics of Infectious Diseases. Infection, Genetics and Evolution. 11 (4), pp. 695-697. https://doi.org/10.1016/j.meegid.2011.02.012

myKaryoView: a light-weight client for visualization of genomic data
Jimenez, R.C., Salazar, G.A., Gel, B., Dopazo, J., Mulder, N. and Corpas, M. 2011. myKaryoView: a light-weight client for visualization of genomic data. PLoS ONE. 6 (10) e26345. https://doi.org/10.1371/journal.pone.0026345

DECIPHER: Shedding Light on Chromosomal Imbalance and Phenotype Interpretation
Corpas, M., Richards, S., Bevan, P., van Vooren, S., Pettett, R., Firth, H. and Carter, N. 2009. DECIPHER: Shedding Light on Chromosomal Imbalance and Phenotype Interpretation. 7th European Cytogenetics Conference. Stockholm, Sweden 04 - 07 Jul 2009

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Firth, H.V., Richards, S.M., Bevan, A.P., Clayton, S., Corpas, M., Rajan, D., Van Vooren, S., Moreau, Y., Pettett, R.M. and Carter, N.P. 2009. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. The American Journal of Human Genetics. 84 (4), pp. P524-533. https://doi.org/10.1016/j.ajhg.2009.03.010

ENFIN - An integrative structure for systems biology
Reisinger, F., Corpas, M., Hancock, J., Hermjakob, H., Birney, E. and Kahlem, P. 2008. ENFIN - An integrative structure for systems biology. in: International Workshop on Data Integration in the Life Sciences Springer. pp. 132-143

Ten simple rules for organizing a scientific meeting.
Corpas, M., Gehlenborg, N., Janga, S.C. and Bourne, P.E. 2008. Ten simple rules for organizing a scientific meeting. PLOS Computational Biology. 4 (6) e1000080. https://doi.org/10.1371/journal.pcbi.1000080

Highlights from the Third International Society for Computational Biology Student Council Symposium at the Fifteenth Annual International Conference on Intelligent Systems for Molecular Biology
Gehlenborg, N., Corpas, M. and Janga, S.C. 2007. Highlights from the Third International Society for Computational Biology Student Council Symposium at the Fifteenth Annual International Conference on Intelligent Systems for Molecular Biology. BMC Bioinformatics. 8 (Supplement 8) I1. https://doi.org/10.1186/1471-2105-8-s8-i1

Folding patterns in protein sequences
Corpas, M. 2007. Folding patterns in protein sequences. PhD thesis University of Manchester https://doi.org/10.6084/m9.figshare.964811.v1

PFF--an integrated database of residues and fragments critical for protein folding
Corpas, M., Sinnott, J., Thorne, D., Pettifer, S., Attwood , T. and the PFF consortium 2007. PFF--an integrated database of residues and fragments critical for protein folding. BMC Systems Biology. 1 P48. https://doi.org/10.1186/1752-0509-1-S1-P48

Scientists & societies: Community outreach
Corpas, M. 2005. Scientists & societies: Community outreach. Nature. 436, p. 1204. https://doi.org/10.1038/nj7054-1204b

Integrating simulation packages via systems biology mark-up language
Corpas, M. 2003. Integrating simulation packages via systems biology mark-up language. in: International Conference on Computational Methods in Systems Biology Springer.