Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic testing
Renan Rodrigues Neves Ribeiro do Nascimento,
Caio Robledo D’Angioli Costa Quaio,
Christine Hsiaoyun Chung
et al.
Abstract:Advances in DNA sequencing technologies, especially next-generation sequencing (NGS), which is the basis for whole-exome sequencing (WES) and whole-genome sequencing (WGS), have profoundly transformed immune-mediated rheumatic disease diagnosis. Recently, substantial cost reductions have facilitated access to these diagnostic tools, expanded the capacity of molecular diagnostics and enabled the pursuit of precision medicine in rheumatology. Understanding the fundamental principles of genetics and diversity in … Show more
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