Summary
THE CLINICAL GENOME RESOURCE ? ADVANCING GENOMIC MEDICINE THROUGH BIOCURATION AND EXPERT ASSESSMENT OF GENES AND VARIANTS AT SCALE - PROJECT SUMMARY/ABSTRACT HIGH-QUALITY EVIDENCE ABOUT CLINICALLY RELEVANT GENES AND VARIANTS IS A FUNDAMENTAL CORNERSTONE OF GENOMIC MEDICINE. ALL ASPECTS OF CLINICAL CARE DERIVE FROM ACCURATE INFORMATION ABOUT THE ETIOLOGY, NATURAL HISTORY, AND MANAGEMENT OF DISEASE. WITH GENOMIC ANALYSIS BECOMING MORE ROUTINE FOR PATIENT CARE, THE PUBLIC AVAILABILITY OF WELL-CURATED AND EXPERTLY ADJUDICATED KNOWLEDGE ABOUT GENES AND VARIANTS IS CRITICAL. THE CLINGEN RESOURCE REPRESENTS A HIGHLY COLLABORATIVE EFFORT OF THE GENETICS COMMUNITY TO ESTABLISH AN EVIDENCE-BASED RESOURCE FOR THE ASSESSMENT OF THE CLINICAL RELEVANCE OF GENES AND VARIANTS THAT IS READILY ACCESSIBLE TO (AND TRUSTED BY) DIAGNOSTIC LABORATORIES, PROVIDERS, AND PATIENTS. OUR OBJECTIVE IS TO IMPROVE PATIENT CARE THROUGH ENHANCED AND ACCELERATED CURATION OF THE CLINICAL GENOME USING INNOVATIVE APPROACHE
