Gonçalo Abecasis Explained

Gonçalo Abecasis
Birth Name:Gonçalo Rocha Abecasis
Birth Date:8 May 1976
Nationality:Portuguese
Fields:Bioinformatics
Computational biology
Biostatistics
Workplaces:University of Michigan
Alma Mater:University of Leeds
University of Oxford
Thesis Title:Methods for fine mapping complex traits in human pedigrees
Thesis Url:http://solo.bodleian.ox.ac.uk/primo_library/libweb/action/dlDisplay.do?docId=oxfaleph015401584
Thesis Year:2001
Doctoral Advisor:William Cookson
Doctoral Students:Mingyao Li
Awards:Overton Prize (2013)[1]
Footnotes:Works at Regeneron
Spouse:Cristen Willer
Children:5

Gonçalo Rocha Abecasis (born 1976) is a Portuguese American biomedical researcher at the University of Michigan, serves as Vice President & Chief Genomicsand Data Science Officer at the Regeneron Genetics Center,[2] and was chair of the Department of Biostatistics in the School of Public Health. He leads a group at the Center for Statistical Genetics in the Department of Biostatistics, where he is also the Felix E. Moore Collegiate Professor of Biostatistics and director of the Michigan Genomic Initiative.[3] His group develops statistical tools to analyze the genetics of human disease.[4]

Education and early life

Abecasis is the oldest of 12 children in his family, born in Moura to José Manuel and Maria Teresa.[5] He grew up in Portugal and Macau (then Portuguese Macau). After learning computer programming in a high school club, he received a Bachelor of Science degree in Genetics from the University of Leeds in 1997, working with Mary Anne Shaw, and a D. Phil in human genetics[6] from the University of Oxford in 2001, working with William Cookson and Lon Cardon.[7]

Research

Abecasis works on statistical and computational approaches to human genetic disease, including psoriasis and cardiovascular diseases.[8] His group develops tools to analyze and visualize biomedical data, often using C++.[8] He first applied his programming knowledge during his Ph.D. studies to develop tools to analyze the data on asthma susceptibility that his project was generating. He continued as a biostatistician when he moved to Michigan in 2001, where he was recruited and mentored by Michael Boehnke.[1] [8] [7] He is a proponent of data sharing.[7] His work has included the 1000 Genomes Project[9] and a collaboration with Oxford researchers.[3]

Awards and honours

Abecasis won an Excellence in Research Award from the University of Michigan School of Public Health in 2008,[10] and he became a professor at the University of Michigan in 2009.[8] He won the 2013 Overton Prize from the International Society for Computational Biology, giving a keynote speech at the ISMB,[1] and was named a Pew Scholar by the Pew Charitable Trusts in 2005.[11] His work was cited in 2010 by US Vice-President Joe Biden in a speech on the importance of biomedical research regarding the Recovery Act Innovation Report.[7] [12]

His published work is influential - as of 2018, he had an h-index of 145 and 144,018 citations. Thomson Reuters noted that he had 10 'hot papers' (in the top 0.1% by citations) in 2009.[13] He was also noted for his 'hot papers' in 2011 and 2012.[3] [14]

In October 2014, he was awarded the Curt Stern Award in Human Genetics by the American Society of Human Genetics (jointly with Mark J. Daly).[15]

He was elected to the Institute of Medicine in October 2014.[16]

Personal life

Goncalo is married to University of Michigan scientist Cristen Willer. They have five children.[5] [17]

Notes and References

  1. Fogg . C. N. . Kovats . D. E. . 10.1093/bioinformatics/btt251 . International Society for Computational Biology Honors Gonçalo Abecasis with Top Bioinformatics/Computational Biology Award for 2013 . Bioinformatics . 29 . 12 . 1586–1587 . 2013 . 23661697 .
  2. https://www.regeneron.com/downloads/regn-genetics-center-factsheet.pdf
  3. News: University professor earns accolades for research on genome sequencing. Greenberg. Will. 12 June 2013. Michigan Daily. 17 December 2013.


  4. -
    - Abecasis . G. R.. Gonçalo Abecasis. Cherny . S. S. . Cookson . W. O. . Cardon . L. R. . Merlin—rapid analysis of dense genetic maps using sparse gene flow trees . 10.1038/ng786 . Nature Genetics . 30 . 1 . 97–101 . 2001 . 11731797. 12226524.
    - Li . H. . Heng Li. Handsaker . B. . Wysoker . A. . Fennell . T. . Ruan . J. . Homer . N. . Marth . G. . Abecasis . G. . Gonçalo Abecasis. Durbin . R. . Richard M. Durbin. 10.1093/bioinformatics/btp352 . 1000 Genome Project Data Processing Subgroup . The Sequence Alignment/Map format and SAMtools . Bioinformatics . 25 . 16 . 2078–2079 . 2009 . 19505943 . 2723002 .
    -
    - The International HapMap Consortium. Gibbs . R. A. . Belmont . J. W. . Hardenbol . P. . Willis . T. D. . Yu . F. . Yang . H. . Ch'Ang . L. Y. . Huang . W. . 10.1038/nature02168. Liu . B.. Shen . Y.. Tam . P. K. H.. Tsui . L. C.. Waye . M. M. Y.. Wong . J. T. F.. Zeng . C.. Zhang . Q.. Chee . M. S.. Galver . L. M.. Kruglyak . S.. Murray . S. S.. Oliphant . A. R.. Montpetit . A.. Hudson . T. J.. Chagnon . F.. Ferretti . V.. Leboeuf . M.. Phillips . M. S.. Verner . A.. Kwok . P. Y. . 1. The International HapMap Project . Nature . 426 . 6968 . 789–796 . 2003 . 14685227 . 2003Natur.426..789G. 2027.42/62838. 4387110. free.
    - Frazer . K. A. . Frazer . D. G. . Ballinger . D. R. . Cox . D. A.. Hinds . L. L. . Stuve . R. A. . Gibbs . J. W. . Belmont . A. . Boudreau . P. . Hardenbol . 10.1038/nature06258 . S. M. . Leal . S. . Pasternak . D. A. . Wheeler . T. D. . Willis . F. . Yu . H. . Yang . C. . Zeng . Y. . Gao . H. . Hu . W. . Hu . C. . Li . W. . Lin . S. . Liu . H. . Pan . X. . Tang . J. . Wang . W. . Wang . J. . Yu . B. . Zhang . Q. . Zhang . H. . A second generation human haplotype map of over 3.1 million SNPs . Nature . 449 . 7164 . 851–861 . 2007 . 17943122 . 2689609 . 2007Natur.449..851F . 29 .
  5. Web site: Gonçalo Rocha Abecasis . 2014 . Geneall.net . 2014-01-08 . https://web.archive.org/web/20140108010059/http://www.geneall.net/P/per_page.php?id=507681 . dead.
  6. DPhil . Gonçalo. Abecasis . Methods for fine mapping complex traits in human pedigrees . University of Oxford . 2002 . Gonçalo Abecasis.
  7. Web site: Congratulations to 2013 ISCB Overton Prize Winner: Goncalo Abecasis. Fogg. Christine N.. 28 June 2013. ISCB. 17 December 2013.
  8. Web site: Profile: Gonçalo Abecasis Mines Genomes for Biomedical Gold. Karlin. Susan. 17 September 2013. IEEE Spectrum. 17 December 2013.
  9. Durbin . R. M. . Richard M. Durbin. Abecasis . G. R.. Gonçalo Abecasis . Altshuler . R. M. . Auton . G. A. R. . Brooks . D. R. . Durbin . A. . Gibbs . A. G. . Hurles . F. S. . McVean . F. M. . Donnelly . 10.1038/nature09534 . P. . Egholm . M. . Flicek . P. . Gabriel . S. B. . Gibbs . R. A. . Knoppers . B. M. . Lander . E. S. . Lehrach . H. . Mardis . E. R. . McVean . G. A. . Nickerson . D. A. . Peltonen . L. . Schafer . A. J. . Sherry . S. T. . Wang . J. . Wilson . R. K. . Gibbs . R. A. . Deiros . D. . Metzker . M. . Muzny . D. . Reid . J. . 1 . A map of human genome variation from population-scale sequencing . Nature . 467 . 7319 . 1061–1073 . 2010 . 20981092. 3042601 . 2010Natur.467.1061T .
  10. Web site: Faculty Awards for Excellence . University of Michigan School of Public Health . 17 December 2013 . dead . https://web.archive.org/web/20140108005129/http://www.sph.umich.edu/about/awards.html . 8 January 2014 .
  11. Web site: Pew Scholars Directory . https://archive.today/20140304102718/http://directory.pewscholars.org/scholars/2005-115/ . dead . 2014-03-04 . Pew Charitable Trusts Website . 2014-03-04.
  12. Web site: Biden: U-M transforming economy through innovation. Serwach. Joe. 25 August 2010. University of Michigan News Service. 17 December 2013.
  13. Web site: The Hottest Research of 2009. King. Christopher. March–April 2010. Sciencewatch.com. Thomson Reuters. 17 December 2013.
  14. Web site: The Hottest Scientific Researchers of 2012. June 2013. Science Watch. Thomson Reuters. 17 December 2013.
    - Web site: The Hottest Research of 2011. King. Christopher. September 2012. Sciencewatch.com. Thomson Reuters. 17 December 2013.
  15. Web site: Past Award Recipients. October 2014. ashg.org. American Society of Human Genetics. 17 October 2014. 3 October 2014. https://web.archive.org/web/20141003163707/http://www.ashg.org/pages/awards_pastrecipients.shtml#stern. dead.
  16. Web site: Institute Of Medicine Elects 70 New Members, 10 Foreign Associates . National Academy of Sciences . 20 October 2014 . 22 October 2014.
  17. Web site: Gonçalo and Cristen's Picture Album. Gonçalo Abecasis. University of Michigan. 17 December 2013.
    - Web site: Cristen Willer Faculty Profile. University of Michigan Medical School Faculty. University of Michigan. 8 February 2014.

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