127 , 128 , 150 , 151 Assigning a significance to the variants is key, because in the absence of confirmation with follow-up biological studies, including the use of mouse, zebrafish or Drosophila models or site-directed mutagenesis in megakaryocyte-related cells, the alternative is to use sophisticated bioinformatics; new variants are being variously graded as highly significant and likely pathogenic to those of unknown significance. 126 , 131 An early meta-analysis of genome-wide association studies identified 68 common single-nucleotide variants that influenced platelet count or platelet volume; genes already linked to inherited thrombocytopenia, such as THPO , GPIBA , T
1
—
—