A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb-3

Elimb and hindlimb. () Close up of the forelimb shows weak ectopic anterior staining (arrow).<p><b>Copyright information:</b></p><p>Taken from "A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb"</p><p></p><p>Human Molecular Genetics 2008;17(16):2417-2423.</p><p>Published online 7 May 2008</p><p>PMCID:PMC2486440.</p><p>© 2008 The Author(s).</p

Additional file 1: of Procedural and documentation variations in intravenous infusion administration: a mixed methods study of policy and practice across 16 hospital trusts in England

ECLIPSE (Exploring the Current Landscape of Intravenous Infusion Practices & Errors): Debrief and focus group guides. This document provides the debrief and focus group guides that were developed as part of phase 1 of the ECLIPSE project. (DOC 46 kb

Summary statistics for kidney stone GWAS in UK Biobank

Genome-wide association studies (GWAS) were performed in the UK Biobank, excluding participants with conditions predisposing to kidney stone disease (Supplementary Table 3). Genotyping was undertaken using UK-BiLEVE and UK-Biobank Axiom Arrays and called using array intensity data and a custom genotype-calling pipeline. PLINKv1.9 and Rv3.6.1 were used for quality control (QC). Sample-, individual-, and SNP-level QC exclusions are shown in Supplementary Methods.UK Biobank phasing on autosomes was performed with SHAPEIT3 using the 1000 Genomes phase 3 dataset as a reference panel. The Haplotype Reference Consortium reference panel and a merged UK10K/1000 Genomes Phase 3 panel were used in imputation. The resultant dataset comprised 92,693,895 autosomal SNPs, short indels, and large structural variants.A total of 547,011 genotyped and 8,397,548 imputed autosomal SNPs and 733,758 genotyped and 2,635,881 X-chromosome SNPs with MAF ≥0.01 and Info Score ≥0.9 were used at GWAS, using a linear mixed noninfinitesimal model implemented in BOLT-LMMv2.3</p

Kidney stone disease GWAS meta-analysis- FinnGen & UK Biobank

A fixed-effects meta-analysis of kidney stone disease was undertaken using UK Biobank and FinnGen kidney stone GWAS summary statistics for autosomes and the X-chromosome. FinnGen r8 GWAS data are publicly available for the phenotype N14 calculus of kidney and ureter comprising 8597 cases and 333,128 controls. Information on sample phenotyping, genotyping, and GWAS in the FinnGen sample has been previously described. SNPs with MAF 75%) were excluded. The resultant summary statistics were used to perform MR analyses.</p