“Improving data quality is crucial, because if a human genome cannot be independently assembled then the sequence data cannot be sorted into the two sets of parental chromosomes, or haplotypes. This process haplotype phasing will become one of the most useful tools in genomic medicine. Establishing the complete set of genetic information that we received from each parent is crucial to understanding the links between heritability, gene function, regulatory sequences and our predisposition to disease.” J. C. Venter, “Multiple personal genomes await,” Nature, April 2010

For more than a decade, Sorin has been a research leader in the area of ...

Ben Raphael and his collaborators at Washington University in St. Louis have been awarded a five-year year grant from the National Institutes of Health (NIH), in the expected amount of $2.5 million, for their project “Computational Approaches For Structural Variation Studies In Genomes.” The proposed project will develop novel computational techniques to study structural variation, an important class of differences that distinguish individual genome sequences. Structural variants include duplications, insertions, deletions, inversions, and translocations of large blocks of DNA sequence. These differences have been implicated in several human diseases including autism and cancer. New genome technologies are enabling large-scale ...