Contact and support
Need help, have a question, or want to contact the ResearchHub team?
© 2026 ResearchHub. Built for responsible scholarly connection.
Privacy-aware community infrastructureResearch graph
References from A mutation can hide another one: Think Structural Variants!. Local targets link to admitted publications; unresolved targets remain external evidence.
Management of genetic epilepsies: from empirical treatment to precision medicine
10.1016/j.phrs.2016.04.006 · 2016 · External reference
10.1038/ng0692-171
10.1038/ng0692-171 · External reference
10.3390/genes5010013
10.3390/genes5010013 · External reference
A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature
10.1111/jns.12216 · 2017 · External reference
Hearing loss in inherited peripheral neuropathies: molecular diagnosis by NGS in a French series
10.1002/mgg3.839 · 2019 · External reference
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease
10.1038/s10038-019-0710-5 · 2020 · External reference
'COV'COP' allows to detect CNVs responsible for inherited diseases among amplicons sequencing data
10.1093/bioinformatics/btx017 · 2017 · External reference
CovCopCan: an efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer
10.1371/journal.pcbi.1007503 · 2020 · External reference
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
10.1093/bioinformatics/bts526 · 2012 · External reference
Ioncopy: a novel method for calling copy number alterations in amplicon sequencing data including significance assessment
10.18632/oncotarget.7451 · 2016 · External reference
DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data
10.1186/s12859-018-2409-6 · 2018 · External reference
