Fig. 1: Classification of the genetic variants from the 3.5KJPNv2 panel and selection of pathogenic variants of genes for bone dysplasia. | Human Genome Variation

Fig. 1: Classification of the genetic variants from the 3.5KJPNv2 panel and selection of pathogenic variants of genes for bone dysplasia.

From: Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals

Fig. 1

See “Materials and Methods” and the previous report13. The variants interpreted most conservatively as P or LP by InterVar and reported as P or LP in ClinVar were categorized into set 1. Set 2 comprises all P or LP variants, including those “reported” or “predicted (unreported).” The variants interpreted as VUS, with an MAF ≤ 0.03, or reported as P or LP in ClinVar were combined with the variants in set 2 to form set 3. Finally, set 4 comprises a combination of set 3 variants and the variants reported as disease-causing mutations (DMs) in HGMD.

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