Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case

@Peterkjoshi @CGATist @joe_pickrell Or see specialised single-case studies where only a few people are genotyped (usually via short-read sequencing), and researchers do follow-up biological validation and testing until they find a variant that is highly li

Wonderful description of how sound application of NGS can help our patients & families with PID, with detailed methods. Clearly huge benefit to families, but challenges ahead in standardising protocols & offering equitable access @ipopi_info @ESIDs

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case: Gabrielle Bradshaw, Robbie R. Lualhati, Cassie L. Albury, Neven Maksemous, Deidre Roos-Araujo, Robert A. Smith, Miles C. Benton, David A. Eccles,… ht

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case. https://t.co/xhxeAyWYcP