Scientists develop more accurate whole genome variant discovery and interpretation

Scientists from the Icahn School of Medicine at Mount Sinai have developed a new approach to build nearly complete genomes by combining high-throughput DNA sequencing with genome mapping. The methodology enabled researchers to detect complex forms of genomic variation, critically important for their association with human disease, but previously difficult to detect. The study was published today in Nature Methods, and is a collaboration with scientists at European Molecular Biology Lab, Weill Cornell Medical College, Cold Spring Harbor Laboratory, Rockefeller University, University of California, San Francisco, Pacific Biosciences, and BioNano Genomics.

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