Thousands of never-before-seen human genome variations uncovered

10 noviembre 2014

Thousands of never-before-seen genetic variants in the human genome have been uncovered using a new genome sequencing technology. These discoveries close many human genome mapping gaps that have long resisted sequencing. The technique, called single-molecule, real-time DNA sequencing, may now make it possible for researchers to identify potential genetic mutations behind many conditions whose genetic causes have long eluded scientists.