Exome-based search for recurrent disease-causing alleles in Russian population

Medicine & Life Sciences

• Exome 100%
• Acral type Peeling skin syndrome 88%
• Trifunctional Protein Deficiency With Myopathy And Neuropathy 75%
• VLCAD deficiency 72%
• Variant type Xeroderma pigmentosum 71%
• Adrenogenital Syndrome 70%
• Complement C2 69%
• Cytochrome-c Oxidase Deficiency 66%
• Type 2 von Willebrand Disease 66%
• Combined Pituitary Hormone Deficiency 61%
• alpha 1-Antitrypsin Deficiency 61%
• Alleles 61%
• Medical Genetics 56%
• Hepatolenticular Degeneration 53%
• Retinitis Pigmentosa 50%
• Population Control 49%
• Deafness 46%
• Amino Acid Substitution 45%
• Missense Mutation 43%
• Population 32%
• Proteins 30%
• Databases 25%
• Mutation 23%
• Genes 16%