Mark_J._Daly

Mark Daly (scientist)

Mark Daly (scientist)

American geneticist


Mark Joseph Daly is Director of the Finnish Institute for Molecular Medicine (FIMM) at the University of Helsinki,[1] a Professor of Genetics at Harvard Medical School, Chief of the Analytic and Translational Genetic Unit at Massachusetts General Hospital, and a member of the Broad Institute of MIT and Harvard.[2] In the early days of the Human Genome Project, Daly helped develop the genetic model by which linkage disequilibrium could be used to map the haplotype structure of the human genome.[3] In addition, he developed statistical methods to find associations between genes and disorders such as Crohn's disease,[4] inflammatory bowel disease, autism and schizophrenia.[5]

Quick Facts Born, Citizenship ...

Daly is considered a pioneer in the field of human genetics, and is amongst the most cited scientists in the field,[5] and one of the top 100 most cited scientists of all time.[6] He was elected to the National Academy of Medicine in 2017.[7]

Education

Daly studied physics at MIT, although he initially wanted to become a lawyer or poker player, he joined Eric Lander as a freshman.[8] Mark continued to work with Lander, before eventually receiving his PhD from Leiden University in 2004.

Research

Daly trained with Eric Lander at the Whitehead Institute, and most of his initial efforts were to map haplotypes across the human genome. During his time there, his team developed MapMaker, GeneHunter, Haploview, PLINK, and GATK. Collectively these tools have received over 30,000 citations. As genome sequencing has become cheaper, his group works on developing statistical methods to implicate genetic mutations in neuropsychiatric diseases.[9][10]


References

  1. "Unique Finnish genomics scene attracts top US scientist to University of Helsinki | University of Helsinki". University of Helsinki. 2018-02-07. Retrieved 2018-11-19.
  2. "Mark Daly - Broad Institute". Broadinstitute.org. 2015-06-29. Retrieved 20 July 2017.
  3. Daly, Mark J.; Rioux, John D.; Schaffner, Stephen F.; Hudson, Thomas J.; Lander, Eric S. (1 October 2001). "High-resolution haplotype structure in the human genome". Nature Genetics. 29 (2): 229–232. doi:10.1038/ng1001-229. PMID 11586305. S2CID 9619343.
  4. Mark J. Daly, Jeffrey C Barrett; et al. (1 June 2008). "Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease". Nature Genetics. 40 (2): 955–962. doi:10.1038/ng.175. PMC 2574810. PMID 18587394.
  5. Neale, Benjamin M.; Kou, Yan; Liu, Li; Ma'ayan, Avi; Samocha, Kaitlin E.; Sabo, Aniko; Lin, Chiao-Feng; Stevens, Christine; Wang, Li-San; Makarov, Vladimir; Polak, Paz; Yoon, Seungtai; Maguire, Jared; Crawford, Emily L.; Campbell, Nicholas G.; Geller, Evan T.; Valladares, Otto; Shafer, Chad; Liu, Han; Zhao, Tuo; Cai, Guiqing; Lihm, Jayon; Dannenfelser, Ruth; Jabado, Omar; Peralta, Zuleyma; Nagaswamy, Uma; Muzny, Donna; Reid, Jeffrey G.; Newsham, Irene; Wu, Yuanqing; Lewis, Lora; Han, Yi; Voight, Benjamin F.; Lim, Elaine; Rossin, Elizabeth; Kirby, Andrew; Flannick, Jason; Fromer, Menachem; Shakir, Khalid; Fennell, Tim; Garimella, Kiran; Banks, Eric; Poplin, Ryan; Gabriel, Stacey; DePristo, Mark; Wimbish, Jack R.; Boone, Braden E.; Levy, Shawn E.; Betancur, Catalina; Sunyaev, Shamil; Boerwinkle, Eric; Buxbaum, Joseph D.; Cook, Edwin H.; Devlin, Bernie; Gibbs, Richard A.; Roeder, Kathryn; Schellenberg, Gerard D.; Sutcliffe, James S.; Daly, Mark J. (4 April 2012). "Patterns and rates of exonic de novo mutations in autism spectrum disorders". Nature. 485 (7397): 242–245. Bibcode:2012Natur.485..242N. doi:10.1038/nature11011. PMC 3613847. PMID 22495311.
  6. Samocha, Kaitlin E.; Robinson, Elise B.; Sanders, Stephan J.; Stevens, Christine; Sabo, Aniko; McGrath, Lauren M.; Kosmicki, Jack A.; Rehnström, Karola; Mallick, Swapan; Kirby, Andrew; Wall, Dennis P.; MacArthur, Daniel G.; Gabriel, Stacey B.; DePristo, Mark; Purcell, Shaun M.; Palotie, Aarno; Boerwinkle, Eric; Buxbaum, Joseph D.; Cook Jr, Edwin H.; Gibbs, Richard A.; Schellenberg, Gerard D.; Sutcliffe, James S.; Devlin, Bernie; Roeder, Kathryn; Neale, Benjamin M.; Daly, Mark J. (1 September 2014). "A framework for the interpretation of de novo mutation in human disease". Nature Genetics. 46 (9): 944–950. doi:10.1038/ng.3050. PMC 4222185. PMID 25086666.

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