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Human Genomics|September 18, 2010
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotidesDavid N Cooper, Matthew Mort, Peter D Stenson, et al.Human Mutation|July 29, 2011
Prediction of functional regulatory SNPs in monogenic and complex diseaseYiqiang Zhao, Wyatt T Clark, Matthew Mort, et al.Human Genomics|August 3, 2011
Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutationsGuojie Zhang, Zhang Pei, Edward V Ball, et al.Human Mutation|October 19, 2017
Quantitative mapping of genetic similarity in human heritable diseases by shared mutationsHuiying Zhao, Yuedong Yang, Yutong Lu, et al.Human Genetics|October 1, 2013
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicinePeter D Stenson, Matthew Mort, Edward V Ball, et al.Bioinformatics (Oxford, England)|October 3, 2017
FATHMM-XF: accurate prediction of pathogenic point mutations via extended featuresMark F Rogers, Hashem A Shihab, Matthew Mort, et al.Human Mutation|July 14, 2016
Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory VariantsThomas A Peterson, Matthew Mort, David N Cooper, et al.Genome Medicine|June 12, 2026
Genetically supported drug target prioritization for rare diseasesRobert Chen, Áine Duffy, Matthew Mort, et al.Cell Reports|October 28, 2020
Developmental Gene Expression Differences between Humans and Mammalian ModelsMargarida Cardoso-Moreira, Ioannis Sarropoulos, Britta Velten, et al.Current Protocols in Bioinformatics|September 6, 2012
The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolutionPeter D Stenson, Edward V Ball, Matthew Mort, et al.Pageof 9