Mark Daly (scientist) explained
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]
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]
Notes and References
- News: Unique Finnish genomics scene attracts top US scientist to University of Helsinki University of Helsinki. 2018-02-07. University of Helsinki. 2018-11-19. en.
- Web site: Mark Daly - Broad Institute. Broadinstitute.org. 20 July 2017. 2015-06-29.
- High-resolution haplotype structure in the human genome. Mark J.. Daly. John D.. Rioux. Stephen F.. Schaffner. Thomas J.. Hudson. Eric S.. Lander. 1 October 2001. Nature Genetics. 29. 2. 229–232. 10.1038/ng1001-229. 11586305. 9619343.
- Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Jeffrey C Barrett . etal . Mark J. Daly. 1 June 2008. Nature Genetics. 40. 2. 955–962. 10.1038/ng.175. 18587394. 2574810.
- Web site: ASHG Honors Gonçalo R. Abecasis and Mark J. Daly with Curt Stern Award - ASHG. www.ashg.org. 4 August 2017. 2014-07-02.
- Web site: 1612 Highly Cited Researchers (h>100) according to their Google Scholar Citations public profiles - Ranking Web of Universities. www.webometrics.info. 4 August 2017.
- Web site: National Academy of Medicine Elects 80 New Members. 2017-10-16.
- Web site: Lens :: A New Way of Looking at Science -- Eric Lander: The great amplifier. www.mc.vanderbilt.edu. 4 August 2017.
- Patterns and rates of exonic de novo mutations in autism spectrum disorders. Benjamin M.. Neale. Yan. Kou. Li. Liu. Avi. Ma'ayan. Kaitlin E.. Samocha. Aniko. Sabo. Chiao-Feng. Lin. Christine. Stevens. Li-San. Wang. Vladimir. Makarov. Paz. Polak. Seungtai. Yoon. Jared. Maguire. Emily L.. Crawford. Nicholas G.. Campbell. Evan T.. Geller. Otto. Valladares. Chad. Shafer. Han. Liu. Tuo. Zhao. Guiqing. Cai. Jayon. Lihm. Ruth. Dannenfelser. Omar. Jabado. Zuleyma. Peralta. Uma. Nagaswamy. Donna. Muzny. Jeffrey G.. Reid. Irene. Newsham. Yuanqing. Wu. Lora. Lewis. Yi. Han. Benjamin F.. Voight. Elaine. Lim. Elizabeth. Rossin. Andrew. Kirby. Jason. Flannick. Menachem. Fromer. Khalid. Shakir. Tim. Fennell. Kiran. Garimella. Eric. Banks. Ryan. Poplin. Stacey. Gabriel. Mark. DePristo. Jack R.. Wimbish. Braden E.. Boone. Shawn E.. Levy. Catalina. Betancur. Shamil. Sunyaev. Eric. Boerwinkle. Joseph D.. Buxbaum. Edwin H.. Cook. Bernie. Devlin. Richard A.. Gibbs. Kathryn. Roeder . Gerard D.. Schellenberg. James S.. Sutcliffe. Mark J.. Daly. 4 April 2012. Nature. 485. 7397. 242–245. 10.1038/nature11011. 22495311. 3613847. 2012Natur.485..242N.
- A framework for the interpretation of de novo mutation in human disease. Kaitlin E.. Samocha. Elise B.. Robinson. Stephan J.. Sanders. Christine. Stevens. Aniko. Sabo. Lauren M.. McGrath. Jack A.. Kosmicki. Karola. Rehnström. Swapan. Mallick. Andrew. Kirby. Dennis P.. Wall. Daniel G.. MacArthur. Stacey B.. Gabriel. Mark. DePristo. Shaun M.. Purcell. Aarno. Palotie. Eric. Boerwinkle. Joseph D.. Buxbaum. Edwin H.. Cook Jr. Richard A.. Gibbs. Gerard D.. Schellenberg. James S.. Sutcliffe. Bernie. Devlin. Kathryn. Roeder. Benjamin M.. Neale. Mark J.. Daly. 1 September 2014. Nature Genetics. 46. 9. 944–950. 10.1038/ng.3050. 25086666. 4222185.