Fig. 1: Overview of the rare inherited SNP/INDEL and de novo variants analysis pipeline used in this study. | Molecular Psychiatry

Fig. 1: Overview of the rare inherited SNP/INDEL and de novo variants analysis pipeline used in this study.

From: Identifying rare genetic variants in 21 highly multiplex autism families: the role of diagnosis and autistic traits

Fig. 1: Overview of the rare inherited SNP/INDEL and de novo variants analysis pipeline used in this study.

The separate variant calling and filtering were conducted for de novo and inherited variants. After this, variants were grouped into three tiers. SNV single nucleotide variant, Indel insertion or deletion, NFE Non-Finish European, GATK The Genome Analysis Toolkit, pLI Loss-of-function intolerant, LOEUF Loss-of-function observed/expected upper bound fraction, SIFT Sorting Intolerant From Tolerant, PolyPhen-2 Polymorphism Phenotyping v2, BAP Broad Autistic Phenotype, MAP Medium Autistic Phenotype, NAP Narrow Autistic Phenotype.

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