SAGPEK: fast and flexible approach to identify genotypes of Sanger sequencing data | BMC Bioinformatics
Software architecture SAGPEK mainly processes Sanger sequencing results of two kinds of samples: diploids such as humans and…
Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness | Orphanet Journal of Rare Diseases
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel…