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    Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation by Mn, Weedon, L, Jackson, Jw, Harrison, Ks, Ruth, J, Tyrrell, At, Hattersley, Cf, Wright

    Published in BMJ (Online) (15-02-2021)
    “…To determine whether the sensitivity and specificity of SNP chips are adequate for detecting rare pathogenic variants in a clinically unselected population…”
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    Journal Article