Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis
Article in Journal of Medical Genetics (June 2024)
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Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus
Article in Frontiers in Genetics (March 2024)
Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges
Article in Briefings in Bioinformatics (January 2024)