Browsing by Author "L, Jackson"

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

Mn, Weedon; L, Jackson; Jw, Harrison; Ks, Ruth; J, Tyrrell; At, Hattersley; Cf, Wright (BMJ, 2021-02-15)

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 ...