Skip to main content
. 2023 Jul 5;14:3958. doi: 10.1038/s41467-023-39761-2

Fig. 1. Overview of the study design for sequencing data analysis.

Fig. 1

Flowchart of the variant filtering strategy for whole-genome sequencing in multiplex large families, and candidate gene prioritization and gene set enrichment of whole-exome sequencing in small families. MAF minor allele frequency, GnomAD Genome Aggregation Database, SIFT Sorting Intolerant From Tolerant, Polyphen2 Polymorphism Phenotyping v2, CADD Combined Annotation-Dependent Depletion, GERP++ Genome Evolutionary Rate Profiling version 2.