Article
ActiveDriverDB: human disease mutations and genome variation in post-translational modification sites of proteins.
Nucleic acids research - 4 Jan 2018
Krassowski Michal, Paczkowska Marta, Cullion Kim, Huang Tina, Dzneladze Irakli, Ouellette B F Francis, Yamada Joseph T, Fradet-Turcotte Amelie, Reimand Jüri
Abstract excerpt
Interpretation of genetic variation is needed for deciphering genotype-phenotype associations, mechanisms of inherited disease, and cancer driver mutations. Millions of single nucleotide variants (SNVs) in human genomes are known and thousands are associated with disease. An estimated 21% of disease-associated amino acid substitutions corresponding to missense SNVs are located in protein sites of...
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