Using whole genome sequence findings to assess gene-disease causality in cardiomyopathy and arrhythmia patients.
Aishwarya Rajesh KrishnanMarci L B SchwartzCherith SomervilleQiliang DingRaymond H KimPublished in: Future cardiology (2023)
Aim: The genetic etiologies of cardiomyopathies and arrhythmias have not been fully elucidated. Materials & methods: Research findings from genome analyses in a cardiomyopathy and arrhythmia cohort were gathered. Gene-disease relationships from two databases were compared with patient phenotypes. A literature review was conducted for genes with limited evidence. Results: Of 43 genes with candidate findings from 18 cases, 23.3% of genes had never been curated, 15.0% were curated for cardiomyopathies, 16.7% for arrhythmias and 31.3% for other conditions. 25.5% of candidate findings were curated for the patient's specific phenotype with 11.8% having definitive evidence. MYH6 and TPCN1 were flagged for recuration. Conclusion: Findings from genome sequencing in disease cohorts may be useful to guide gene-curation efforts.
Keyphrases
- quality improvement
- genome wide
- genome wide identification
- dna methylation
- copy number
- case report
- genome wide analysis
- heart failure
- end stage renal disease
- newly diagnosed
- ejection fraction
- transcription factor
- emergency department
- bioinformatics analysis
- radiation therapy
- big data
- locally advanced
- machine learning
- atrial fibrillation
- artificial intelligence
- electronic health record
- deep learning