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Web Resource
Nature Reviews Genetics, ISSN 1471-0056, 05/2018, Volume 19, Issue 5, pp. 299 - 310
Advances in omics technologies - such as genomics, transcriptomics, proteomics and metabolomics - have begun to enable personalized medicine at an... 
PARTITIONING HERITABILITY | VARIANTS | TRANSCRIPTOME | GENETIC RISK | GUT MICROBIOME | GENETICS & HEREDITY | FUNCTIONAL ANNOTATION | SPECTRUM | SOMATIC MUTATIONS | CLINICAL EXOME | GENOME-WIDE ASSOCIATION | Genetic research | Genotype | Health aspects | Innovations | Computational biology | Metabolomics | Integration | Proteomics | Cancer
Journal Article
2013, ISBN 9780199644483, xi, 243 p., [8] p. of plates
Rapid advances in high-throughput genome sequencing technologies foreshadow a near-future in which millions of individuals will gain affordable access to their... 
Genetics, Medical | Genome | Individualized Medicine | Genomics | Biology, life sciences | evolutionary biology | Human genome | Personal Genome Project | Proteomics | Data processing | Genome, Human
Book
Nature, ISSN 0028-0836, 2016, Volume 536, Issue 7616, pp. 285 - 291
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe... 
HUMAN-DISEASE | EVOLUTION | MULTIDISCIPLINARY SCIENCES | MUTATION | GUIDELINES | FRAMEWORK | SEQUENCE VARIANTS | NETWORKS | DISCOVERY | HUMAN-POPULATION HISTORY | Genetic aspects | Research | Man | Human beings | Genetic variation | Analysis | Datasets | Proteins | Disease | Genes | Principal components analysis | Genetics | Genomes | Data bases
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 01/2017, Volume 45, Issue 1, pp. D840 - D845
Worldwide, hundreds of thousands of humans have had their genomes or exomes sequenced, and access to the resulting data sets can provide valuable information... 
FUNCTIONAL PREDICTIONS | VARIANTS | DBNSFP | BIOCHEMISTRY & MOLECULAR BIOLOGY | Exome | User-Computer Interface | Computational Biology - methods | Humans | Databases, Genetic | Software | Genome-Wide Association Study - methods | Genomics - methods | Web Browser | Database Issue
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 10/2016, Volume 48, Issue 10, pp. 1107 - 1111
Copy number variation (CNV) affecting protein-coding genes contributes substantially to human diversity and disease. Here we characterized the rates and... 
Genetic Predisposition to Disease | Gene Frequency | Humans | Databases, Genetic | Male | DNA Copy Number Variations | Exome | Schizophrenia - genetics | Adult | Female | Polymorphism, Single Nucleotide | Genome, Human | Child | Proteins | Studies | Datasets | Genes | Genomics | Quality | Genomes | Mutation | Arrays | Estimates | Methods
Journal Article
by Battle, Alexis and Brown, Christopher D and Engelhardt, Barbara E and Montgomery, Stephen B and Aguet, François and Ardlie, Kristin G and Cummings, Beryl B and Gelfand, Ellen T and Getz, Gad and Hadley, Kane and Handsaker, Robert E and Huang, Katherine H and Kashin, Seva and Karczewski, Konrad J and Lek, Monkol and Li, Xiao and MacArthur, Daniel G and Nedzel, Jared L and Nguyen, Duyen T and Noble, Michael S and Segrè, Ayellet V and Trowbridge, Casana A and Tukiainen, Taru and Abell, Nathan S and Balliu, Brunilda and Barshir, Ruth and Basha, Omer and Bogu, Gireesh K and Brown, Anew and Castel, Stephane E and Chen, Lin S and Chiang, Colby and Conrad, Donald F and Cox, Nancy J and Damani, Farhan N and Davis, Joe R and Delaneau, Olivier and Dermitzakis, Emmanouil T and Eskin, Eleazar and Ferreira, Peo G and Frésard, Laure and Gamazon, Eric R and Garrido-Martín, Diego and Gewirtz, Ariel D. H and Gliner, Genna and Gloudemans, Michael J and Guigo, Roderic and Hall, Ira M and Han, Buhm and He, Yuan and Hormozdiari, Farhad and Howald, Ceic and Kyung Im, Hae and Jo, Brian and Yong Kang, Eun and Kim, Yungil and Kim-Hellmuth, Sarah and Lappalainen, Tuuli and Li, Gen and Li, Xin and Liu, Boxiang and Mangul, Serghei and McCarthy, Mark I and McDowell, Ian C and Mohammadi, Pejman and Monlong, Jean and Muñoz-Aguirre, Manuel and Ndungu, Anne W and Nicolae, Dan L and Nobel, Anew B and Oliva, Meritxell and Ongen, Halit and Palowitch, John J and Panousis, Nikolaos and Papasaikas, Panagiotis and Park, Yoson and Parsana, Princy and Payne, Anthony J and Peterson, Christine B and Quan, Jie and Reverter, Ferran and Sabatti, Chiara and Saha, Ashis and Sammeth, Michael and Scott, Alexana J and Shabalin, Aney A and Sodaei, Reza and Stephens, Matthew and Stranger, Barbara E and Strober, Benjamin J and Sul, Jae Hoon and Tsang, Emily K and Urbut, Sarah and van de Bunt, Martijn and Wang, Gao and Wen, Xiaoquan and Wright, Fred A and Xi, Hualin S and Yeger-Lotem, Esti and Zappala, Zachary and ... and Pathology and Laboratory Data Analysis and Lab Data Anal Coordinating Ct and Stat Methods Grps-Anal Working Grp and Biospecimen Collection Source Sit and Genome Browser Data Integration and Biospecimen Core Resource-Vari and Leidos Biomedical-Project and Genome Browser Data Integr and Enhancing Gtex Egtex Grps and Gtex Consortium and Biospecimen Collection Source and Brain Bank Repository-Univ M and GTEx Consortium and Leidos Biomedical—Project Management and Laboratory, Data Analysis &Coordinating Center (LDACC) and NIH/NCI and Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group and Statistical Methods groups—Analysis Working Group and Biospecimen Collection Source Site—NDRI and NIH/NHGRI and Brain Bank Repository—University of Miami Brain Endowment Bank and Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz and NIH Common Fund and Enhancing GTEx (eGTEx) groups and NIH/NIMH and Genome Browser Data Integration &Visualization—EBI and Lead analysts and Biospecimen Collection Source Site—RPCI and Biospecimen collection and Biospecimen Core Resource—VARI and NIH program management and eQTL manuscript working group and ELSI Study and NIH/NIDA
Nature, ISSN 0028-0836, 2017, Volume 550, Issue 7675, pp. 204 - 213
Journal Article