User profiles for Melivoia Rapti
 | Melivoia RaptiAI/ML Data Analyst Intern, SIB Verified email at unil.ch Cited by 40 |
[HTML][HTML] Identification of the HECT E3 ligase UBR5 as a regulator of MYC degradation using a CRISPR/Cas9 screen
…, X Liang, A Mendiola, J Reece-Hoyes, M Rapti… - Scientific Reports, 2020 - nature.com
MYC oncoprotein is a multifunctional transcription factor that regulates the expression of a
large number of genes involved in cellular growth, proliferation and metabolism. Altered MYC …
large number of genes involved in cellular growth, proliferation and metabolism. Altered MYC …
CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications
CoverageMaster (CoM) is a copy number variation (CNV) calling algorithm based on depth-of-coverage
maps designed to detect CNVs of any size in exome [whole exome sequencing (…
maps designed to detect CNVs of any size in exome [whole exome sequencing (…
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2
SE Antonarakis, A Holoubek, M Rapti… - Human Molecular …, 2022 - academic.oup.com
Knobloch syndrome is an autosomal recessive phenotype mainly characterized by retinal
detachment and encephalocele caused by biallelic pathogenic variants in the COL18A1 gene. …
detachment and encephalocele caused by biallelic pathogenic variants in the COL18A1 gene. …