Computational protocol: Severe alpha 1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid

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Protocol publication

[…] By using different prediction methods integrated in Alamut 1.3 software we evaluated splice signal detection (SpliceSiteFinder-like, MaxEntScan, GeneSplicer, Human Splicing Finder or Known constitutive signals) and Exonic Splicing Enhancers ESE binding site detection (ESEFinder) comparing reference and mutated sequences. […]

Pipeline specifications

Software tools MaxEntScan, GeneSplicer, ESEfinder
Application WGS analysis
Organisms Homo sapiens
Diseases Liver Diseases, Lung Diseases, Genetic Diseases, Inborn
Chemicals Thymine