W. Richard McCombie
Professor
Davis Family Professor of Human Genetics
Cancer Center Member
Ph.D., University of Michigan, 1982
mccombie@cshl.edu | 516-422-4083
Over the last two decades, revolutionary improvements in DNA sequencing technology have made it faster, more accurate, and much cheaper. We are now able to sequence up to 10 trillion DNA letters in just one month. I harness these technological advancements to assemble genomes for a variety of organisms and probe the genetic basis of neurological disorders, including autism and schizophrenia, better understand cancer progression and understand the complex structures of the genomes of higher plants.
The insights of聽W. Richard McCombie聽and colleagues have led to the introduction and optimization of novel methods of high-throughput genome sequencing. His team has made it possible to catalog variation among individual organisms in a way that would have been unthinkable 10 years ago. They have brought online a new generation of Illumina sequencers and optimized their function to a level at which eight to 10 trillion DNA bases can be sequenced in a month. McCombie鈥檚 team has been involved in international efforts culminating in genome sequences for maize, rice, bread wheat鈥攖hree of the world鈥檚 most important food crops. They have also had an important role in projects to sequence the flowering plant聽Arabidopsis thaliana聽(the first plant genome sequence), the fission yeast聽Schizosaccharomyces pombe,聽as well as the human genome and other important genomes. McCombie鈥檚 group is currently involved in several important projects to resequence genes in patient samples that are of special interest to human health, including聽顿滨厂颁1听(a strong candidate gene for schizophrenia), looking for genetic variants implicated in bipolar illness and major recurrent depression.聽 They are also looking for genes, that contribute to cancer progression using whole genome sequencing or a method called exome sequencing which they developed with Greg Hannon to look at mutations in the regions of the genome that code for proteins.
At the Lab Episode 16: Bats!
July 23, 2024
Shriek if you must. Their remarkable genome might provide new insights into natural links between the immune system, aging, and cancer resistance.
From plant genomics to a bioscience revolution
March 25, 2024
Laboratoryplayed a lead role in mapping the first plant genome. Today, that breakthrough fuels a whole new understanding of life on Earth.
A quiz for the ages
January 29, 2024
Want to know the secret to a long life? So do Laboratoryscientists. Take this short quiz to see what they鈥檝e found out about aging and longevity.
From cancer genetics to cancer treatments
January 18, 2024
One cancer gene, one cancer genome, two Laboratorydiscoveries that helped shape the face of modern cancer medicine.
Holy immunity! Bat genes key against COVID, cancer
October 16, 2023
Rapid evolution has streamlined bats鈥� immune systems. This may explain why they鈥檙e resistant to cancer and viruses like Ebola or COVID-19.
The evolution of autism research
May 25, 2023
The conversation around autism has evolved over the past two decades. So has Laboratoryresearch. This retrospective shows how we鈥檝e helped move the needle.
Laboratoryprofessors on the cutting edge of scientific research
November 21, 2022
Four Laboratoryresearchers were ranked among the world鈥檚 most cited in 2022.
President鈥檚 essay: Foundations for the future
May 25, 2022
Strategically designed to spark scientific exchange and inspiration, Laboratoryis a unique research and education environment for advancing science.
New genetic research to understand racial disparity in cancers
September 8, 2020
Laboratorywill study the genetic contributions of ethnicity to colon, endometrial, and pancreas cancers in African Americans.
Laboratoryinvestigators rank among world鈥檚 most highly cited
December 11, 2019
Seven researchers affiliated with Laboratoryare among the scientists producing the top 1 percent of the most highly-cited research in the world.
All Publications
2 Jul 2024 | bioRxiv
Kramer, Melissa; Goodwin, Sara; Wappel, Robert; Borio, Matilde; Offit, Kenneth; Feldman, Darren; Stadler, Zsofia; McCombie, W;
4 May 2024 | Molecular Psychiatry
Stern, Shani; Zhang, Lei; Wang, Meiyan; Wright, Rebecca; Rosh, Idan; Hussein, Yara; Stern, Tchelet; Choudhary, Ashwani; Tripathi, Utkarsh; Reed, Patrick; Sadis, Hagit; Nayak, Ritu; Shemen, Aviram; Agarwal, Karishma; Cordeiro, Diogo; Peles, David; Hang, Yuqing; Mendes, Ana; Baul, Tithi; Roth, Julien; Coorapati, Shashank; Boks, Marco; McCombie, W; Hulshoff Pol, Hilleke; Brennand, Kristen; Réthelyi, János; Kahn, René; Marchetto, Maria; Gage, Fred;
17 Mar 2024 | bioRxiv
Koren, Sergey; Bao, Zhigui; Guarracino, Andrea; Ou, Shujun; Goodwin, Sara; Jenike, Katharine; Lucas, Julian; McNulty, Brandy; Park, Jimin; Rautianinen, Mikko; Rhie, Arang; Roelofs, Dick; Schneiders, Harrie; Vrijenhoek, Ilse; Nijbroek, Koen; Ware, Doreen; Schatz, Michael; Garrison, Erik; Huang, Sanwen; McCombie, William; Miga, Karen; Wittenberg, Alexander; Phillippy, Adam;
7 Mar 2024 | bioRxiv
Gustafson, Jonas; Gibson, Sophia; Damaraju, Nikhita; Zalusky, Miranda; Hoekzema, Kendra; Twesigomwe, David; Yang, Lei; Snead, Anthony; Richmond, Phillip; De Coster, Wouter; Olson, Nathan; Guarracino, Andrea; Li, Qiuhui; Miller, Angela; Goffena, Joy; Anderson, Zachery; Storz, Sophie; Ward, Sydney; Sinha, Maisha; Gonzaga-Jauregui, Claudia; Clarke, Wayne; Basile, Anna; Corvelo, Andre; Reeves, Catherine; Helland, Adrienne; Musunuri, Rajeeva; Revsine, Mahler; Patterson, Karynne; Paschal, Cate; Zakarian, Christina; Goodwin, Sara; Jensen, Tanner; Robb, Esther; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CR; Genomics Research to Elucidate the Genetics of Rare Diseases (GR; McCombie, W; Sedlazeck, Fritz; Zook, Justin; Montgomery, Stephen; Garrison, Erik; Kolmogorov, Mikhail; Schatz, Michael; McLaughlin, Richard; Dashnow, Harriet; Zody, Michael; Loose, Matthew; Jain, Miten; Eichler, Evan; Miller, Danny;
22 Feb 2024 | Genome Biology | 25(1):53
Critical Assessment of Genome Interpretation Consortium;
4 Sep 2023 | Genome Biology and Evolution | 15(9)
Scheben, Armin; Mendivil Ramos, Olivia; Kramer, Melissa; Goodwin, Sara; Oppenheim, Sara; Becker, Daniel; Schatz, Michael; Simmons, Nancy; Siepel, Adam; McCombie, W; Pfeifer, Susanne;
24 Aug 2023 | bioRxiv
Stevenson, Dennis; Ramakrishnan, Srividya; Alves, Cristiane; Coelho, Laís; Kramer, Melissa; Goodwin, Sara; Ramos, Olivia; Eshel, Gil; Sondervan, Veronica; Frangos, Samantha; Zumajo-Cardona, Cecilia; Jenike, Katherine; Ou, Shujun; Wang, Xiaojin; Lee, Yin; Loke, Stella; Rossetto, Maurizio; McPherson, Hannah; Nigris, Sebastiano; Moschin, Silvia; Little, Damon; Katari, Manpreet; Varala, Kranthi; Kolokotronis, Sergios-Orestis; Ambrose, Barbara; Croft, Larry; Coruzzi, Gloria; Schatz, Michael; McCombie, W; Martienssen, Robert;
12 Jan 2023 | Current Opinion in Biotechnology | 79:102886
Gladman, Nicholas; Goodwin, Sara; Chougule, Kapeel; Richard McCombie, William; Ware, Doreen;
9 Mar 2022 | American Journal of Human Genetics
Noyes, Michelle; Harvey, William; Porubsky, David; Sulovari, Arvis; Li, Ruiyang; Rose, Nicholas; Audano, Peter; Munson, Katherine; Lewis, Alexandra; Hoekzema, Kendra; Mantere, Tuomo; Graves-Lindsay, Tina; Sanders, Ashley; Goodwin, Sara; Kramer, Melissa; Mokrab, Younes; Zody, Michael; Hoischen, Alexander; Korbel, Jan; McCombie, W; Eichler, Evan;
18 Feb 2022 | Cancer Research
Bhatia, Sonam; Kramer, Melissa; Russo, Suzanne; Naik, Payal; Arun, Gayatri; Brophy, Kyle; Andrews, Peter; Fan, Cheng; Perou, Charles; Preall, Jonathan; Ha, Taehoon; Plenker, Dennis; Tuveson, David; Rishi, Arvind; Wilkinson, John; McCombie, W; Kostroff, Karen; Spector, David;