Scientists develop more accurate whole genome variant discovery, interpretation

29 junio 2015

Conventional next-generation sequencing (NGS) techniques are able to accurately detect certain types of variation, such as single nucleotide variants and small insertions or deletions, but miss many large or complex forms of genomic variation that are associated with human disease. Now, a new approach to build nearly complete genomes by combining high-throughput DNA sequencing with genome mapping has been developed by researchers.