Extended Data Fig. 1: Quality control and annotation pipelines for HD exome sequencing data. | Nature Neuroscience

Extended Data Fig. 1: Quality control and annotation pipelines for HD exome sequencing data.

From: Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset

Extended Data Fig. 1

a, Quality control pipeline showing where and why sequencing samples were removed from the dataset. From an initial 785 sequenced exomes, including some samples re-sequenced due to initial low quality, 683 passed all quality control steps (465 from REGISTRY-HD, 218 from PREDICT-HD). Subgroups of this population were used in downstream analyses: a continuous group (N = 558) containing all individuals with a known age at motor onset and a dichotomous group (N = 637) containing all individuals with an extreme phenotype, either early or late actual or predicted onset of symptoms, or more or less severe motor or cognitive symptom scores. See also Fig. 1 and Supplementary Fig. 1. b, Annotation pipeline indicating the pathway, databases (gnomAD & dbSNFP) and tools used to annotate individual variants across exomes. Key: VEP, variant effect predictor tool. See also Supplementary Fig. 2.

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