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PLoS genetics, 06/2016, Volume 12, Issue 6, p. e1006121
Using robust, integrated analysis of multiple genomic datasets, we show that genes depleted for non-synonymous de novo mutations form a subnetwork of 72... 
Gene Regulatory Networks - genetics | Hippocampus - embryology | Protein Interaction Maps - genetics | Humans | Genetic Diseases, Inborn - genetics | Genome - genetics | Genetic Variation - genetics | Models, Genetic | Mutation - genetics
Journal Article
Neuron, ISSN 0896-6273, 09/2015, Volume 87, Issue 6, pp. 1215 - 1233
Journal Article
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 | Index Medicus
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
European Journal of Human Genetics, ISSN 1018-4813, 11/2016, Volume 25, p. 227–233
Germline mutation detection from human DNA sequence data is challenging due to the rarity of such events relative to the intrinsic error rates of sequencing... 
Journal Article
Science, ISSN 0036-8075, 12/2015, Volume 350, Issue 6265, pp. 1262 - 1266
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 | Index Medicus | 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 | Index Medicus
Journal Article
by Dickinson, Mary E and Flenniken, Ann M and Ji, Xiao and Teboul, Lydia and Wong, Michael D and White, Jacqueline K and Meehan, Terrence F and Weninger, Wolfgang J and Westerberg, Henrik and Adissu, Hibret and Baker, Candice N and Bower, Lynette and Brown, James M and Brianna Caddle, L and Chiani, Francesco and Clary, Dave and Cleak, James and Daly, Mark J and Denegre, James M and Doe, Brendan and Dolan, Mary E and Edie, Sarah M and Fuchs, Helmut and Gailus-Durner, Valerie and Galli, Antonella and Gambadoro, Alessia and Gallegos, Juan and Guo, Shiying and Horner, Neil R and Hsu, Chih-wei and Johnson, Sara J and Kalaga, Sowmya and Keith, Lance C and Lanoue, Louise and Lawson, Thomas N and Lek, Monkol and Mark, Manuel and Marschall, Susan and Mason, Jeremy and McElwee, Melissa L and Newbigging, Susan and Nutter, Lauryl M.J and Peterson, Kevin A and Ramirez-Solis, Ramiro and Rowland, Douglas J and Ryder, Edward and Samocha, Kaitlin E and Seavitt, John R and Selloum, Mohammed and Szoke-Kovacs, Zsombor and Tamura, Masaru and Trainor, Amanda G and Tudose, Ilinca and Wakana, Shigeharu and Warren, Jonathan and Wendling, Olivia and West, David B and Wong, Leeyean and Yoshiki, Atsushi and MacArthur, Daniel G and Tocchini-Valentini, Glauco P and Gao, Xiang and Flicek, Paul and Bradley, Allan and Skarnes, William C and Justice, Monica J and Parkinson, Helen E and Moore, Mark and Wells, Sara and Braun, Robert E and Svenson, Karen L and Hrabe de Angelis, Martin and Herault, Yann and Mohun, Tim and Mallon, Ann-Marie and Mark Henkelman, R and Brown, Steve D.M and Adams, David J and Kent Lloyd, K.C and McKerlie, Colin and Beaudet, Arthur L and Bucan, Maja and Murray, Stephen A and McKay, Matthew and Urban, Barbara and Lund, Caroline and Froeter, Erin and LaCasse, Taylor and Mehalow, Adrienne and Gordon, Emily and Donahue, Leah Rae and Taft, Robert and Kutney, Peter and Dion, Stephanie and Goodwin, Leslie and Kales, Susan and Urban, Rachel and Palmer, Kristina and Pertuy, Fabien and Bitz, Deborah and ... and Int Mouse Phenotyping Consortium and The International Mouse Phenotyping Consortium
Nature, ISSN 0028-0836, 09/2016, Volume 537, Issue 7621, pp. 508 - 514
Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting from knockouts of these genes in mice have provided tremendous... 
MICRO-CT | MULTIDISCIPLINARY SCIENCES | DISEASE | GENOME-WIDE | MAMMALIAN GENE-FUNCTION | SCREENS | GLYCOGENIN-1 DEFICIENCY | IDENTIFICATION | EXPRESSION | MOUSE EMBRYO | RESOURCE | Genetic research | Phenotype | Research | High-throughput screening (Biochemical assaying) | Methods | Genotype & phenotype | Disease | Developmental biology | Genes | Genomes | Mutation | Embryos | Index Medicus | knockout | embryonic lethal | mouse | KOMP | IMPC | EUCOMM
Journal Article