Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation

OBJECTIVE: To determine whether the sensitivity and specificity of SNP chips are adequate for detecting rare pathogenic variants in a clinically unselected population. DESIGN: Retrospective, population based diagnostic evaluation. PARTICIPANTS: 49 908 people recruited to the UK Biobank with SNP chip...

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Detalles Bibliográficos
Autores principales: MN, Weedon, L, Jackson, JW, Harrison, KS, Ruth, J, Tyrrell, AT, Hattersley, CF, Wright
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group Ltd. 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7879796/
https://www.ncbi.nlm.nih.gov/pubmed/33589468
http://dx.doi.org/10.1136/bmj.n214

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7879796/
https://www.ncbi.nlm.nih.gov/pubmed/33589468
http://dx.doi.org/10.1136/bmj.n214

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