Jared C. Roach is an American biologist who invented the pairwise end sequencing strategy while a graduate student at the University of Washington.[1][2][3][4]
Jared Roach | |
---|---|
![]() Roach in 2011 | |
Citizenship | Vereinigte Staaten |
Alma mater | University of Washington Cornell University |
Known for | Pairwise End Sequencing |
Scientific career | |
Fields | Biotechnology, Genomics, Systems biology |
Institutions | Institute for Systems Biology |
Thesis | Random subcloning, pairwise end sequencing, and the molecular evolution of the vertebrate trypsinogens (1998) |
Doctoral advisor | Leroy Hood |
Website | Profile at ISB |
Education and early career
editRoach attended Cornell University, where he received his Bachelor of Science in biology in 1990. He then attended the University of Washington, where he received his PhD in immunology in 1998, and his MD in 1999. He trained in internal medicine at the University of Utah through 2001.[5]
Career
editStarting as a graduate student in the 1990s, Roach worked on the Human Genome Project from its early days through its conclusion in 2003.[4][6] He invented pairwise end-sequencing while a graduate student in Leroy Hood's laboratory.[4][7][3]
Roach was a senior fellow at the department of molecular biotechnology at the University of Washington from 1999 to 2000. In 2001, he became a research scientist at the Institute for Systems Biology.[8]
In 2009, Roach was first author on a project which sequenced the whole genomes of a family of four, including two children affected by Miller syndrome and primary ciliary dyskinesia.[9][10] This effort identified the cause of Miller syndrome, a simple recessive Mendelian disorder.[11] It also produced the first complete whole-chromosomal parental haplotypes in humans.[5] Parental haplotyping is the process of assigning all the variants in the genome to paternal and maternal chromosomes.[12] The team applied these techniques to identify genetic mutations related to several genetic diseases, including genes for Adams–Oliver syndrome, alternating hemiplegia of childhood, certain subtypes of epilepsy, palmoplantar keratoderma, and Fanconi anemia.[13][14][15][16][17]
From 2007 to 2009, he was scientific director of the High-Throughput Analysis Core (HAC) laboratory at Seattle Children's Hospital. Since 2009, he has been a senior research scientist at the Institute for Systems Biology. Roach's group currently applies systems biology to complex genetic diseases, focusing on Alzheimer's disease.[18]
In 2020, Roach was involved in a project to map out the molecular phylogenetics of Washington state's initial SARS-CoV-2 outbreak.[19][20][21]
Selected publications
editRoach has authored more than 70 publications with over 9000 citations.[22][23]
- Aparicio, S.; Chapman, J.; Stupka, E.; Putnam, N.; Chia, J. M.; Dehal, P.; Christoffels, A.; Rash, S.; Hoon, S.; Smit, A.; Gelpke, M. D.; Roach, J.; Oh, T.; Ho, I. Y.; Wong, M.; Detter, C.; Verhoef, F.; Predki, P.; Tay, A.; Lucas, S.; Richardson, P.; Smith, S. F.; Clark, M. S.; Edwards, Y. J.; Doggett, N.; Zharkikh, A.; Tavtigian, S. V.; Pruss, D.; Barnstead, M.; et al. (2002). "Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes". Science. 297 (5585): 1301–10. Bibcode:2002Sci...297.1301A. doi:10.1126/science.1072104. PMID 12142439. S2CID 10310355.
- Roach, J. C.; Glusman, G.; Rowen, L.; Kaur, A.; Purcell, M. K.; Smith, K. D.; Hood, L. E.; Aderem, A. (2005). "The evolution of vertebrate Toll-like receptors". Proceedings of the National Academy of Sciences of the United States of America. 102 (27): 9577–82. Bibcode:2005PNAS..102.9577R. doi:10.1073/pnas.0502272102. PMC 1172252. PMID 15976025.
- Roach, J. C.; Boysen, C.; Wang, K.; Hood, L. (1995). "Pairwise end sequencing: A unified approach to genomic mapping and sequencing". Genomics. 26 (2): 345–53. doi:10.1016/0888-7543(95)80219-c. PMID 7601461.
- Roach, J. C.; Glusman, G.; Smit, A. F.; Huff, C. D.; Hubley, R.; Shannon, P. T.; Rowen, L.; Pant, K. P.; Goodman, N.; Bamshad, M.; Shendure, J.; Drmanac, R.; Jorde, L. B.; Hood, L.; Galas, D. J. (2010). "Analysis of genetic inheritance in a family quartet by whole-genome sequencing". Science. 328 (5978): 636–9. Bibcode:2010Sci...328..636R. doi:10.1126/science.1186802. PMC 3037280. PMID 20220176.
- Roach, J. C.; Glusman, G.; Hubley, R.; Montsaroff, S. Z.; Holloway, A. K.; Mauldin, D. E.; Srivastava, D.; Garg, V.; Pollard, K. S.; Galas, D. J.; Hood, L.; Smit, A. F. (2011). "Chromosomal haplotypes by genetic phasing of human families". American Journal of Human Genetics. 89 (3): 382–97. doi:10.1016/j.ajhg.2011.07.023. PMC 3169815. PMID 21855840.
- Roach, J. C. (1995). "Random subcloning". Genome Research. 5 (5): 464–73. doi:10.1101/gr.5.5.464. PMID 8808467.
References
edit- ^ Xiao W, Wu L, Yavas G, Simonyan V, Ning B, Hong H (2016). "Challenges, Solutions, and Quality Metrics of Personal Genome Assembly in Advancing Precision Medicine". Pharmaceutics. 8 (2): 15. doi:10.3390/pharmaceutics8020015. PMC 4932478. PMID 27110816.
{{cite journal}}
: CS1 maint: multiple names: authors list (link) - ^ Timmerman, Luke (August 10, 2016). Hood: Trailblazer of the Genomics Age. Bandera Press. p. 265. ISBN 978-0997709308.
- ^ a b Jones, Neil C. (2004). An introduction to bioinformatics algorithms. Pevzner, Pavel. Cambridge, MA: MIT Press. p. 300. ISBN 978-0-262-25643-8. OCLC 57559562.
- ^ a b c Hood, Lee (1 July 2008). "A Personal Journey of Discovery: Developing Technology and Changing Biology". Annual Review of Analytical Chemistry. 1 (1): 1–43. Bibcode:2008ARAC....1....1H. doi:10.1146/annurev.anchem.1.031207.113113. PMID 20636073. S2CID 6436663.
- ^ a b Vence, Tracy (November 2011). "Genome analysis: With New Algorithm, Researchers Generate Haplotypes for Two Families". Genome Technology. November 2011.
- ^ Scher, Steve (October 24, 2011). "Genomes and Future Technology". Weekday. NPR. KUOW.
- ^ Roach, Jared (1995). "Pairwise end sequencing: a unified approach to genomic mapping and sequencing". Genomics. 26 (2): 345–353. doi:10.1016/0888-7543(95)80219-C. PMID 7601461.
- ^ "ISB's Jared Roach on Why Two Technologies Are Better than One". GenomeWeb. June 8, 2005. Retrieved October 23, 2020.
- ^ Wade, Nicholas (March 11, 2010). "Disease Cause is Pinpointed with Genome". New York Times. p. 1.
- ^ Stewart, Kirsten (March 10, 2010). "Unraveling one family's genome". The Salt Lake Tribune.
- ^ Ada Hamosh (February 16, 2017). "DIHYDROOROTATE DEHYDROGENASE; DHODH". Online Mendelian Inheritance in Man (OMIM). National Library of Medicine. Retrieved February 8, 2021.
- ^ Chen, Rui; Snyder, Michael (January 2013). "Promise of personalized omics to precision medicine". Wiley Interdisciplinary Reviews. Systems Biology and Medicine. 5 (1): 73–82. doi:10.1002/wsbm.1198. ISSN 1939-005X. PMC 4154620. PMID 23184638.
- ^ Capuano, Alessandro; Garone, Giacomo; Tiralongo, Giuseppe; Graziola, Federica (2020). "Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations". The Application of Clinical Genetics. 13: 71–81. doi:10.2147/TACG.S210325. ISSN 1178-704X. PMC 7125306. PMID 32280259.
- ^ Ceccaldi, Raphael; Sarangi, Prabha; D'Andrea, Alan D. (June 2016). "The Fanconi anaemia pathway: new players and new functions". Nature Reviews. Molecular Cell Biology. 17 (6): 337–349. doi:10.1038/nrm.2016.48. ISSN 1471-0080. PMID 27145721. S2CID 1712640.
- ^ Marla J. F. O'Neill (October 5, 2015). "ADAMS-OLIVER SYNDROME 6; AOS6". Online Mendelian Inheritance in Man (OMIM). National Library of Medicine. Retrieved February 8, 2021.
- ^ Cassandra L. Kniffin (January 8, 2015). "SYNTAXIN 1B; STX1B". Online Mendelian Inheritance in Man (OMIM). National Library of Medicine. Retrieved February 8, 2021.
- ^ Marla J. F. O'Neill (June 1, 2015). "TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 3; TRPV3". Online Mendelian Inheritance in Man (OMIM). National Library of Medicine. Retrieved February 8, 2021.
- ^ "Institute for Systems Biology". ISB. Retrieved February 8, 2021.
- ^ Kamb, Lewis (March 31, 2020). "Flood of coronavirus data overwhelms Washington state's disease-reporting system, leading to lag in data". Seattle Times.
- ^ Kamb, Lewis (May 14, 2020). "When did coronavirus really hit Washington? 2 Snohomish County residents with antibodies were ill in December". Seattle Times.
- ^ Doughton, Sandi (May 26, 2020). "New analysis may rewrite the history of Washington state's coronavirus outbreak". Seattle Times.
- ^ ""Roach JCC" on NCBI Pubmed". Retrieved 5 November 2022.
- ^ "Jared Roach Profile on Google Scholar". Retrieved 5 November 2022.
External links
edit- List of publications authored by Jared Roach while at the Institute for Systems Biology