Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

A major use of the 1000 Genomes Project (1000GP) data is genotype imputation in genome-wide association studies (GWAS). Here we develop a method to estimate haplotypes from low-coverage sequencing data that can take advantage of single-nucleotide polymorphism (SNP) microarray genotypes on the same samples. First the SNP array data are phased to build a backbone (or 'scaffold') of haplotypes across each chromosome. We then phase the sequence data 'onto' this haplotype scaffold. This approach can take advantage of relatedness between sequenced and non-sequenced samples to improve accuracy. We use this method to create a new 1000GP haplotype reference set for use by the human genetic community. Using a set of validation genotypes at SNP and bi-allelic indels we show that these haplotypes have lower genotype discordance and improved imputation performance into downstream GWAS samples, especially at low-frequency variants. © 2014 Macmillan Publishers Limited. All rights reserved

Spectroscopic studies of metal complexes of ethylenediaminetetra-acetic acid in aqueous-solution

Aqueous solutions of the metal complexes of ethylenediaminetetra-acetic acid (EDTA) are widely used in analysis; though X-ray diffraction methods cannot be directly used for structural determination in solution, ultraviolet-visible region, vibrational and NMR spectroscopy studies demonstrate that the species in solution adopt a similar range of stereochemistries to those determined for the solid state. Thus a review of the spectroscopic properties of the solutions suggests that chelates are formed in which the denticity of EDTA varies from one to six and the co-ordination number about the metal from four to nine