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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
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
Neuron, ISSN 0896-6273, 09/2015, Volume 87, Issue 6, pp. 1215 - 1233
Journal Article
Science, ISSN 0036-8075, 12/2015, Volume 350, Issue 6265, pp. 1262 - 1266
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2016, Volume 48, Issue 5, pp. 552 - 555
Journal Article
by Neale, Benjamin M and Neale, Benjamin M and Kou, Yan and Samocha, Kaitlin E and Liu, Li and Lim, Elaine and Ma'Ayan, Avi and Rossin, Elizabeth and Samocha, Kaitlin E and Kirby, Andrew and Fromer, Menachem and Sabo, Aniko and Lin, Chiao-Feng and Daly, Mark J and Stevens, Christine and Rossin, Elizabeth and Kirby, Andrew and Wang, Li-San and Makarov, Vladimir and Flannick, Jason and Polak, Paz and Fromer, Menachem and Shakir, Khalid and Yoon, Seungtai and Maguire, Jared and Fennell, Tim and Garimella, Kiran and Crawford, Emily L and Banks, Eric and Campbell, Nicholas G and Poplin, Ryan and Geller, Evan T and Valladares, Otto and Gabriel, Stacey and Schafer, Chad and De Pristo, Mark and Sunyaev, Shamil and Liu, Han and Daly, Mark J and Zhao, Tuo and Cai, Guiqing and Lihm, Jayon and Dannenfelser, Ruth and Jabado, Omar and Peralta, Zuleyma and Nagaswamy, Uma and Muzny, Donna and Reid, Jeffrey G and Newsham, Irene and Wu, Yuanqing and Lewis, Lora and Han, Yi and Voight, Benjamin F and Lim, Elaine and Rossin, Elizabeth and Kirby, Andrew and Flannick, Jason and Fromer, Menachem and Shakir, Khalid and Fennell, Tim and Garimella, Kiran and Banks, Eric and Poplin, Ryan and Gabriel, Stacey and Depristo, Mark and Wimbish, Jack R and Boone, Braden E and Levy, Shawn E and Betancur, Catalina and Sunyaev, Shamil and Boerwinkle, Eric and Buxbaum, Joseph D and Cook Jr, Edwin H and Devlin, Bernie and Gibbs, Richard A and Roeder, Kathryn and Schellenberg, Gerard D and Sutcliffe, James S and Daly, Mark J
Nature, ISSN 0028-0836, 05/2012, Volume 484, Issue 7397, pp. 242 - 246
Journal Article