En esta presentación, nuestra genetista la Dra. Raquel Pérez Carro destacará las ventajas del análisis de exoma trío, mostrando cómo este enfoque facilita el análisis e interpretación de variantes, así como una clasificación más precisa de las mismas y permite completar el estudio genético con una única prueba. A través de ejemplos de casos clínicos, se ilustrará cómo un análisis e interpretación de alta calidad de exoma trío puede ser decisivo a la hora de obtener respuestas para los pacientes.
Whole Exome Sequencing (WES) is a powerful diagnostic tool, especially when performed as a family trio, which typically involves sequencing samples from both parents and their affected child. In this presentation, Dr Saija Ahonen and Dr Kirsty Wells will highlight the advantages of trio WES analysis, demonstrating how this approach…
Summary Ectodermal dysplasias (ED) are a group of genetic conditions that can affect hair, teeth, nails, and sweat glands, sometimes leading to serious health issues like overheating and infections. To better understand the genetic causes of ED, we reviewed results from 250 patients who underwent next-generation sequencing (NGS) panel testing. These panels…
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