Article in Genetics in Medicine Journal

Smirnikhina S.A., head of the FSBI RCMG Genome Editing Laboratory, candidate of med.sc., and Lavrov A.V., candidate of med.sc., leading researcher were co-authors of the international researchers who published an article in the high-rating journal Genetics in Medicine (Q1, impact factor 9.937):

PEDIA: prioritization of exome data by image analysis

Hsieh TC, Mensah MA, Pantel JT, … Lavrov A, ….. Genet Med. 2019 Jun 5. doi: 10.1038/s41436-019-0566-2.

According to the exome sequencing results, the authors have created an algorithm for quantitative assessment of similarity of the phenotype of patients with monogenic pathology based on computer analysis of photographs of patients using artificial intelligence. Phenotyping of the next generation is of clinical value when interpreting sequencing data.

The article is available at the link on the journal websitehttps://www.nature.com/articles/s41436-019-0566-2