Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

PURPOSE: The increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome sequencing (CES) is becoming a valuable diagnostic tool, capable of meeting the diagnostic demand imposed by the vas...

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Detalles Bibliográficos
Autores principales: Molina-Ramírez, Leslie Patricia, Kyle, Claire, Ellingford, Jamie M, Wright, Ronnie, Taylor, Algy, Bhaskar, Sanjeev S, Campbell, Christopher, Jackson, Harriet, Fairclough, Adele, Rousseau, Abigail, Burghel, George J, Dutton, Laura, Banka, Siddharth, Briggs, Tracy A, Clayton-Smith, Jill, Douzgou, Sofia, Jones, Elizabeth A, Kingston, Helen M, Kerr, Bronwyn, Ealing, John, Somarathi, Suresh, Chandler, Kate E, Stuart, Helen M, Burkitt-Wright, Emma MM, Newman, William G, Bruce, Iain A, Black, Graeme C, Gokhale, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Diagnostics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8961756/
https://www.ncbi.nlm.nih.gov/pubmed/33879512
http://dx.doi.org/10.1136/jmedgenet-2020-107303

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