Researchers Create New Way To Locate Big Genetic Variants

December 28, 2009, Yale University

(PhysOrg.com) -- Yale University researchers, analyzing hundreds of billions of bits of genetic information, have collated and standardized 2,000 signposts that mark the boundaries of large blocks of human genomic variants.

This library of genomic “breakpoints’’ was published in the Dec. 27th edition of .

sequencing, or the ordering of the billions of nucleotides that make up the genomes of living organisms, has been a key tool in modern biological research. The quest for variants that change the function of genes began by first focusing on changes, called single (SNPs) in a single genetic letter (or nucleotide). Advances in sequencing technology now enable scientists to decode the genome more rapidly and efficiently, and have paved the way for identifying large block variants, called structural variants or SVs.

These variants cause more nucleotide differences between individuals than SNPs. Some SVs, in fact, involve thousands of base pairs and can wipe out whole genes or create additional copies of other genes that can have major effects on an organism. SVs are sometimes associated with diseases such as cancer and HIV and also with developmental disorders.

Graduate students Hugo Lam and Jasmine Mu and their colleagues in the research team led by Mark Gerstein, professor of molecular biophysics and biochemistry, computer science, and bioinformatics, analyzed data from recent personal genomic studies, such as the 1000 Genomes Project, to identify precise “breakpoint” locations of SVs.

They have shown how this library of breakpoints can help researchers rapidly scan for and characterize SVs in a newly sequenced personal genome. In fact, the sequences in the library can even be put on a commercial SNP chip, which can then be used to assess SVs quickly in population studies.

Explore further: Johns Hopkins to participate in 1000 Genomes Project

Related Stories

Johns Hopkins to participate in 1000 Genomes Project

January 22, 2008

Researchers at the McKusick-Nathans Institute of Genetic Medicine (IGM) at Johns Hopkins will join other national and international scientists in the 1000 Genomes Project, an ambitious effort that will involve sequencing ...

Recommended for you

Scientists shed light on biological roots of individuality

February 16, 2018

Put 50 newborn worms in 50 separate containers, and they'll all start looking for food at roughly the same time. Like members of other species, microscopic C. elegans roundworms tend to act like other individuals their own ...

Plants are given a new family tree

February 16, 2018

A new genealogy of plant evolution, led by researchers at the University of Bristol, shows that the first plants to conquer land were a complex species, challenging long-held assumptions about plant evolution.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.