MÓDULO 7

• Docente: Rosario Carmona
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  CONTENIDO

  
  
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  CASOS PRÁCTICOS

  
  
• Caso práctico 1 Cuestionario
• Caso práctico 2 Cuestionario
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  DOCUMENTACIÓN ADICIONAL

  
  
• Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges. URL

  The emergence of next-generation sequencing (NGS) technology has transformed genetics and genomics. In contrast to earlier methods, nucleotide sequences of millions and billions of DNA fragments can be....
  

• Best practices for the interpretation and reporting of clinical whole genome sequencing. URL

  Whole genome sequencing (WGS) is emerging as a first-tier diagnostic test for rare genetic diseases. Compared to whole exome sequencing (WES) and other molecular diagnostic tests...
  

• Resources and tools for rare disease variant interpretation. URL

  The recent major advances in genome sequencing and analysis technology have opened the road to exome and genome sequencing (ES/GS) as a common diagnostic tool for individual patients...