10 research outputs found
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
Efficacy of pazopanib in progressive, radioiodine-refractory, metastatic differentiated thyroid cancers: Results of a phase 2 consortium study
10.1016/S1470-2045(10)70203-5The Lancet Oncology1110962-972LOAN
A multiinstitutional phase 2 trial of pazopanib monotherapy in advanced anaplastic thyroid cancer
10.1210/jc.2012-1520Journal of Clinical Endocrinology and Metabolism9793179-3184JCEM
A multicenter phase 2 trial of pazopanib in metastatic and progressive medullary thyroid carcinoma: MC057H
10.1210/jc.2013-3713Journal of Clinical Endocrinology and Metabolism9951687-1693JCEM