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.
Daliya KanchevaDerek AtkinsonPeter De RijkMagdalena ZimonTeodora ChamovaVanyo MitevAhmet YaramisGian Maria FabriziHaluk TopalogluIvailo TournevYesim ParmanYesim ParmaEsra BattalogluAlejandro Estrada-CuzcanoAlbena JordanovaPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
We present recommendations for detection of homozygous regions based on WES data and a bioinformatics tool for their identification, which can be widely applied for studying AR disorders.Genet Med 18 6, 600-607.
Keyphrases
- bioinformatics analysis
- cerebral palsy
- high resolution
- randomized controlled trial
- electronic health record
- loop mediated isothermal amplification
- genome wide
- big data
- real time pcr
- clinical practice
- botulinum toxin
- high density
- genome wide identification
- genome wide analysis
- machine learning
- gene expression
- mass spectrometry
- transcription factor
- quantum dots