A Massively Parallel Pipeline to Clone DNA Variants and Examine Molecular Phenotypes of Human Disease Mutations

PLoS Genetics

Volumn 10, Issue 12, 2014, Pages

  Wei, Xiaomu ^a,b   Das, Jishnu ^b,c   Fragoza, Robert ^b,d   Liang, Jin ^b   Bastos de Oliveira, Francisco M ^b,d   Lee, Hao Ran ^b,c   Wang, Xiujuan ^b,c   Mort, Matthew ^e   Stenson, Peter D ^e   Cooper, David N ^e   Lipkin, Steven M ^a   Smolka, Marcus B ^b,d   Yu, Haiyuan ^b,c  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

^b School of Integrative Plant Sciences   (United States)

^c Plant Breeding and Genetics Section in the School of Integrative Plant Science   (United States)

^d Department of Obstetrics Gynecology   (United States)

^e CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GREEN FLUORESCENT PROTEIN; MLH1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; MASS SPECTROMETRY; MOLECULAR CLONING; NEXT GENERATION SEQUENCING; PEPTIDE MAPPING; PHENOTYPE; PROTEIN PROTEIN INTERACTION; PROTEIN STABILITY; SITE DIRECTED MUTAGENESIS; TWO HYBRID SYSTEM; UNTRANSLATED REGION; WESTERN BLOTTING; YEAST; ALLELE; COPY NUMBER VARIATION; EXOME; GENE EXPRESSION REGULATION; GENE LIBRARY; GENETICS; HEK293 CELL LINE; HIGH THROUGHPUT SEQUENCING; LIQUID CHROMATOGRAPHY; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PLASMID; PROCEDURES; PROTEIN DOMAIN; SACCHAROMYCES CEREVISIAE; TANDEM MASS SPECTROMETRY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALLELES; CHROMATOGRAPHY, LIQUID; CLONING, MOLECULAR; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; EXOME; GENE EXPRESSION REGULATION; GENE LIBRARY; HEK293 CELLS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTAGENESIS, SITE-DIRECTED; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; PLASMIDS; PROTEIN INTERACTION DOMAINS AND MOTIFS; PROTEIN STABILITY; SACCHAROMYCES CEREVISIAE; TANDEM MASS SPECTROMETRY;

EID: 84919684016     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1004819     Document Type: Article

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