Application of combined long amplicon sequencing (Colas) for genetic analysis of neurofibromatosis type 1: A pilot study

Keyphrases

• Genetic Analysis 100%
• Neurofibromatosis Type 1 (NF-1) 100%
• Neurofibromatosis Type I 100%
• Cola 100%
• High-throughput Amplicon Sequencing 100%
• Next-generation Sequencing 33%
• Long-range PCR 33%
• Polymorphism 16%
• RNA Splicing 16%
• Gene mutation 16%
• Coding Region 16%
• MRNA Expression 16%
• Allele-specific Expression 16%
• Gene Analysis 16%
• PCR-based 16%
• Causative Gene 16%
• Gene-rich Regions 16%
• Copy number 16%
• Long Genes 16%
• Genomic DNA (gDNA) 16%
• Gene Length 16%
• Microdeletion 16%
• Mutation Spectrum 16%
• Expression Ratio 16%
• Causative mutation 16%
• Full-length cDNA 16%
• Mutation Effect 16%
• Mosaic mutation 16%
• Splicing Abnormality 16%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Amplicon Sequencing 100%
• Polymerase Chain Reaction 40%
• Next Generation Sequencing 40%
• Intron 20%
• Messenger RNA 20%
• RNA Splicing 20%
• Gene Mutation 20%
• Mosaicism 20%
• Gene Analysis 20%
• Coding Region 20%