Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
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Loss of DPP6 in neurodegenerative dementia : a genetic player in the dysfunction of neuronal excitability
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Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing
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Genetics in medicine - ISSN 1098-3600-18:6 (2016) p. 600-607
miRVaS : a tool to predict the impact of genetic variants on miRNAs
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Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing
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