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 W. Richard McCombie 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’s team has been involved in international efforts culminating in genome sequences for maize, rice, bread wheat—three of the world’s most important food crops. They have also had an important role in projects to sequence the flowering plant Arabidopsis thaliana (the first plant genome sequence), the fission yeast Schizosaccharomyces pombe, as well as the human genome and other important genomes. McCombie’s group is currently involved in several important projects to resequence genes in patient samples that are of special interest to human health, including DISC1 (a strong candidate gene for schizophrenia), looking for genetic variants implicated in bipolar illness and major recurrent depression. 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.
New genetic research to understand racial disparity in cancers
September 8, 2020
Cold Spring Harbor Laboratory will study the genetic contributions of ethnicity to colon, endometrial, and pancreas cancers in African Americans.
CSHL investigators rank among world’s most highly cited
December 11, 2019
Seven researchers affiliated with CSHL are among the scientists producing the top 1 percent of the most highly-cited research in the world.
An essay from the President: Biology for the planet
May 16, 2019
CSHL plant scientists are looking for solutions to the biggest questions in agriculture as environments are reshaped by climate change.
Base Pairs Episode 17: Genomes, justice, and the journey here
September 15, 2018
A look at how gene-mapping works, what scientists can tell by looking at your genome, and what it means for your privacy.
Genomes, justice, and the journey here
September 15, 2018
CSHL Professor W. Richard McCombie discusses genomic privacy and sequencing technology in this episode of Base Pairs.
Massive genome havoc in breast cancer is revealed
July 12, 2018
Researchers have made a highly detailed map of 20,000 structural variations in a cancer cell’s genome
Portrait of a Neuroscience Powerhouse
April 27, 2018
A relatively small neuroscience group at CSHL is having an outsized impact on a dynamic and highly competitive field
New study casts sharpest light yet on genetic mysteries of autism
October 29, 2014
Our picture of how genetic errors contribute to autism has just gotten sharper.
Putting together the genome with first-year student Maria Nattestad
May 21, 2014
Student Maria Nattestad looks to develop a fast and accurate way of putting short DNA sequences back together into the long, linear sequences.
Research sees overlap in altered genes found in schizophrenia, autism and intellectual disability
April 28, 2014
New evidence supports theory that some cases of schizophrenia and autism have malfunctions in some of the same genes are contributing to pathology.