Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss
Bron
Frontiers in Cell and Developmental Biology - ISSN 2296-634X-9 (2021) p.
Loss of DPP6 in neurodegenerative dementia : a genetic player in the dysfunction of neuronal excitability
Bron
Acta neuropathologica - ISSN 0001-6322-137:6 (2019) p. 901-918
Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
Bron
Genome research - ISSN 1088-9051-29:7 (2019) p. 1178-1187
NanoSatellite : accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION
Bron
Genome biology - ISSN 1474-760X-20:1 (2019) p.
miRVaS : a tool to predict the impact of genetic variants on miRNAs
Bron
Nucleic acids research - ISSN 0305-1048-44:3 (2016) p.