Correspondence on “A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes” by Seaby et al

Published:September 13, 2022DOI:
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        • Seaby E.G.
        • Smedley D.
        • Taylor Tavares A.L.
        • et al.
        A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes.
        Genet Med. 2022; 24: 1697-1707
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        SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
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      Linked Article

      • Response to Ramos et al
        Genetics in Medicine
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          We thank Ramos et al1 for their correspondence and interest in our recent article that applied constraint metrics to uplift novel disease gene discovery.2 The authors provide valuable insight by applying an approach similar to ours to identify novel genes using single sample (as opposed to trio) exome sequencing in Brazil and in narrowing the gap of health inequality in genetic testing.
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