Akhilesh K Sharma, Praveen Rikhari, Alok K Shukla, Pragya Rikhari
Role of Acamprosate and Baclofen as Anti-craving Agents in Alcohol Use Disorder: A 12-Week Prospective Study
Cureus
nextgeneration sequencing significant impact genetic disease diagnosis interpretation vast amount genomic data generates challenging address american college medical genetics genomics association molecular pathology established guidelines standardized variant interpretation manuscript present updated hospital israelita albert einstein standards constitutional sequence variants classification incorporating modifications leading genetics societies clingen initiative first standardized scientific publications documents reliable sources document ensure evidencebased approach next defined databases would provide variant information classification process established terminology molecular findings set standards diseasegene associations determined nomenclature classification criteria subsequently defined general rules variant classification bayesian statistical reasoning principles enhance process also defined bioinformatics standards automated classification workgroup adhered genespecific rules workflows curated clingen variant curation expert panels whenever available additionally distinct set specifications criteria modulation created cancer genes recognizing unique characteristics development internal consensus standards constitutional sequence variant classification specifically adapted brazilian population contributes continuous refinement variant classification practices aim efforts workgroup enhance reliability uniformity variant classification