Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewed
Comprehensive reanalysis for CNVs in exome sequencing data from unsolved rare disease cases results in new diagnoses
German M. Demidov, Burcu Yaldiz, José Garcia‐Pelaez…·Emanuele Raineri
The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.
9 citations