Corrigendum: Opportunities and challenges for molecular understanding of ciliopathies - The 100,000 Genomes Project (Frontiers in Genetics DOI: 10.3389/fgene.2019.00127)

Abstract

In the original article, there was an error. We incorrectly stated that 'If a predicted pathogenic variant is found in the primary [gene] panel [on PanelApp], this will be classified as Tier 1. If a predicted pathogenic variant is found in another associated panel, this will be classified as Tier 2. If a predicted pathogenic variant in any other gene is found, this will be classified as Tier 3'. A correction has been made to the article section Ciliopathy genomics data analysis in the 100,000 Genomes Project 'Tier 1 variants are protein truncating (frameshift, stop gain, stop loss, splice acceptor variant or splice donor variant) or de novo (protein truncating, missense or splice region) variants in at least one transcript of a gene on the diagnostic grade 'green' gene list in the virtual gene panel for the disorder in question. Tier 2 variants are protein altering variants, such as missense and splice region variants, in at least one transcript of a gene on the diagnostic grade 'green' gene list in the virtual gene panel for the disorder in question. Tier 1 and 2 variants are not commonly found in the general healthy population, the allelic state matches the known mode of inheritance for the gene and disorder, and segregates with disease (where applicable). Protein truncating, de novo or protein altering variants affecting genes not in the virtual gene panel are Tier 3. If a variant does not meet any of these criteria it is untiered'. The original article has been updated. This does not change the scientific conclusions of the article in any way. For further information we direct readers to https://panelapp.genomicsengland.co.uk/ and http://www.acgs.uk.com/media/1013939/11.45_-_01_-_validation_of_100_000_genomes_results__from_wgs_to_the_geno mics_england_result_emma_baple_genomics_england_acgs_2016.pd f We wish to extend our thanks to Prof Sian Ellard, South West NHS Genomic Medicine Centre, for bringing this to our attention.