MetaGraph compresses vast data archives into a search engine for scientists, opening up new frontiers of biological discovery ...

Sex cells made from scratch could revolutionize human reproduction. But researchers are struggling to translate promising ...

The new program is validated in a set of clinical pedigrees demonstrating its practical accuracy and relevance to the field. Collectively, the data are compelling and support the major conclusions of ...

RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this ...