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238 results
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An expectation-maximization program for determining allelic spectrum from CNV data (CoNVEM): insights into population allelic architecture and its mutational history.
Gaunt TR, Rodriguez S, Guthrie PA, Day IN. Gaunt TR, et al. Among authors: day in. Hum Mutat. 2010 Apr;31(4):414-20. doi: 10.1002/humu.21199. Hum Mutat. 2010. PMID: 20077501
Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.
Alsaadi MM, Erzurumluoglu AM, Rodriguez S, Guthrie PA, Gaunt TR, Omar HZ, Mubarak M, Alharbi KK, Al-Rikabi AC, Day IN. Alsaadi MM, et al. Among authors: day in. Hum Mutat. 2014 Dec;35(12):1446-8. doi: 10.1002/humu.22698. Hum Mutat. 2014. PMID: 25224326 Free PMC article.
Ranking non-synonymous single nucleotide polymorphisms based on disease concepts.
Shihab HA, Gough J, Mort M, Cooper DN, Day IN, Gaunt TR. Shihab HA, et al. Among authors: day in. Hum Genomics. 2014 Jun 30;8(1):11. doi: 10.1186/1479-7364-8-11. Hum Genomics. 2014. PMID: 24980617 Free PMC article.
Predicting the functional consequences of cancer-associated amino acid substitutions.
Shihab HA, Gough J, Cooper DN, Day IN, Gaunt TR. Shihab HA, et al. Among authors: day in. Bioinformatics. 2013 Jun 15;29(12):1504-10. doi: 10.1093/bioinformatics/btt182. Epub 2013 Apr 25. Bioinformatics. 2013. PMID: 23620363 Free PMC article.
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models.
Shihab HA, Gough J, Cooper DN, Stenson PD, Barker GL, Edwards KJ, Day IN, Gaunt TR. Shihab HA, et al. Among authors: day in. Hum Mutat. 2013 Jan;34(1):57-65. doi: 10.1002/humu.22225. Epub 2012 Nov 2. Hum Mutat. 2013. PMID: 23033316 Free PMC article.
Sequential sentinel SNP Regional Association Plots (SSS-RAP): an approach for testing independence of SNP association signals using meta-analysis data.
Zheng J, Gaunt TR, Day IN. Zheng J, et al. Among authors: day in. Ann Hum Genet. 2013 Jan;77(1):67-79. doi: 10.1111/j.1469-1809.2012.00737.x. Ann Hum Genet. 2013. PMID: 23278391
Analysis of potential genomic confounding in genetic association studies and an online genomic confounding browser (GCB).
Raistrick CA, Alharbi KK, Day IN, Gaunt TR. Raistrick CA, et al. Among authors: day in. Ann Hum Genet. 2011 Nov;75(6):723-31. doi: 10.1111/j.1469-1809.2011.00677.x. Ann Hum Genet. 2011. PMID: 21972962
Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies.
Rodriguez S, Gaunt TR, Day IN. Rodriguez S, et al. Among authors: day in. Am J Epidemiol. 2009 Feb 15;169(4):505-14. doi: 10.1093/aje/kwn359. Epub 2009 Jan 6. Am J Epidemiol. 2009. PMID: 19126586 Free PMC article.
Genome-wide data-mining of candidate human splice translational efficiency polymorphisms (STEPs) and an online database.
Raistrick CA, Day IN, Gaunt TR. Raistrick CA, et al. Among authors: day in. PLoS One. 2010 Oct 11;5(10):e13340. doi: 10.1371/journal.pone.0013340. PLoS One. 2010. PMID: 20948966 Free PMC article.
dbSNP in the detail and copy number complexities.
Day IN. Day IN. Hum Mutat. 2010 Jan;31(1):2-4. doi: 10.1002/humu.21149. Hum Mutat. 2010. PMID: 20024941 Review.
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