A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations

Understanding the functional relevance of DNA variants is essential for all exome and genome sequencing projects. However, current mutagenesis cloning protocols require Sanger sequencing, and thus are prohibitively costly and labor-intensive. We describe a massively-parallel site-directed mutagenesi...

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Veröffentlicht in:	PLoS genetics 2014-12, Vol.10 (12), p.e1004819
Hauptverfasser:	Wei, Xiaomu, Das, Jishnu, Fragoza, Robert, Liang, Jin, Bastos de Oliveira, Francisco M, Lee, Hao Ran, Wang, Xiujuan, Mort, Matthew, Stenson, Peter D, Cooper, David N, Lipkin, Steven M, Smolka, Marcus B, Yu, Haiyuan
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing - genetics Adaptor Proteins, Signal Transducing - metabolism Alleles Biology and Life Sciences Chromatography, Liquid Cloning Cloning, Molecular - methods Colonies & territories Deoxyribonucleic acid Disease DNA DNA Copy Number Variations DNA Mutational Analysis - methods DNA sequencing Exome Experiments Gene Expression Regulation Gene Library Gene mutations Genetic research Genetic variation Genomes HEK293 Cells High-Throughput Nucleotide Sequencing Humans Mutagenesis Mutagenesis, Site-Directed Mutation MutL Protein Homolog 1 Nuclear Proteins - genetics Nuclear Proteins - metabolism Nucleotide sequencing Phenotype Plasmids - genetics Protein Interaction Domains and Motifs Protein Stability Proteins Saccharomyces cerevisiae - genetics Tandem Mass Spectrometry
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