Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Science

Volumn 354, Issue 6319, 2016, Pages

  Dewey, Frederick E ^a   Murray, Michael F ^b   Overton, John D ^a   Habegger, Lukas ^a   Leader, Joseph B ^b   Fetterolf, Samantha N ^b   O'Dushlaine, Colm ^a   Van Hout, Cristopher V ^a   Staples, Jeffrey ^a   Gonzaga Jauregui, Claudia ^a   Metpally, Raghu ^b   Pendergrass, Sarah A ^b   Giovanni, Monica A ^b   Kirchner, H Lester ^b   Balasubramanian, Suganthi ^a   Abul Husn, Noura S ^a   Hartzel, Dustin N ^b   Lavage, Daniel R ^b   Kost, Korey A ^b   Packer, Jonathan S ^a   Lopez, Alexander E ^a   Penn, John ^a   Mukherjee, Semanti ^a   Gosalia, Nehal ^a   Kanagaraj, Manoj ^a   Li, Alexander H ^a   Mitnaul, Lyndon J ^a   Adams, Lance J ^b   Person, Thomas N ^b   Praveen, Kavita ^a   Marcketta, Anthony ^a   Lebo, Matthew S ^c   Austin Tse, Christina A ^c   Mason Suares, Heather M ^c   Bruse, Shannon ^a   Mellis, Scott ^d   Phillips, Robert ^d   Stahl, Neil ^d   Murphy, Andrew ^d   Economides, Aris ^a   Skelding, Kimberly A ^b   Still, Christopher D ^b   Elmore, James R ^b   Borecki, Ingrid B ^a   Yancopoulos, George D ^d   Davis, F Daniel ^b   Faucett, William A ^b   Gottesman, Omri ^a   Ritchie, Marylyn D ^b   Shuldiner, Alan R ^a   Reid, Jeffrey G ^a   Ledbetter, David H ^b   Baras, Aris ^a   Carey, David J ^b   more..

^a AB)   (United States)

^b GEISINGER HEALTH SYSTEM   (United States)

^c Laboratory for Molecular Medicine   (United States)

^d REGENERON PHARMACEUTICALS INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE CITRATE SYNTHASE; ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; ANGPTL 3 PROTEIN; APOLIPOPROTEIN B; APOLIPOPROTEIN C3; ASPARTATE AMINOTRANSFERASE; CALCIUM; CD36 ANTIGEN; CHOLESTEROL ESTER TRANSFER PROTEIN; CYTOKINE; EGL 9 FAMILY HYPOXIAINDUCIBLE FACTOR 1; GLUCOSE 6 PHOSPHATASE; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; GUANOSINE PHOSPHATE REDUCTASE; HEMOGLOBIN BETA CHAIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE; INTERLEUKIN 3; INTERLEUKIN 5; LIPID; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; NPC1L1 PROTEIN; PEPTIDES AND PROTEINS; PROPROTEIN CONVERTASE 9; THYROTROPIN; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; ANTILIPEMIC AGENT;

BLOOD; DATA SET; FUNCTIONAL ROLE; GENE FLOW; GENETIC ANALYSIS; HEALTH CARE; HEALTH IMPACT; LIPID; LOCAL PARTICIPATION; PHENOTYPE;

ADULT; AGED; ARTICLE; BASOPHIL; ELECTRONIC HEALTH RECORD; EOSINOPHIL COUNT; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; LABORATORY TEST; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PEDIGREE; PERSONALIZED MEDICINE; PHASE 2 CLINICAL TRIAL (TOPIC); PHENOTYPE; PRIORITY JOURNAL; WHOLE EXOME SEQUENCING; BLOOD; DISEASES; DNA SEQUENCE; DRUG DESIGN; EXOME; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; INDEL MUTATION; INTEGRATED HEALTH CARE SYSTEM; MOLECULARLY TARGETED THERAPY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; DELIVERY OF HEALTH CARE, INTEGRATED; DISEASE; DRUG DESIGN; ELECTRONIC HEALTH RECORDS; EXOME; GENE FREQUENCY; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYPOLIPIDEMIC AGENTS; INDEL MUTATION; LIPIDS; MOLECULAR TARGETED THERAPY; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 85007028930     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.aaf6814     Document Type: Article

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