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Current Protocols in Bioinformatics, ISSN 1934-3396, 2014, Volume 2014, pp. 11.12.1 - 11.12.34
Technological advances have enabled the use of DNA sequencing as a flexible tool to characterize genetic variation and to measure the activity of diverse... 
Genome analysis | Genome features | Bioinformatics | Genomics | Genome intervals | Transcription Factors - metabolism | Gene Expression | Computational Biology | Protein Binding | High-Throughput Nucleotide Sequencing | Software | Genome | Sequence Analysis, DNA
Journal Article
Genome Biology, ISSN 1474-7596, 06/2016, Volume 17, Issue 1, pp. 118 - 118
The integration of genome annotations is critical to the identification of genetic variants that are relevant to studies of disease or other traits. However,... 
Variant | Genome analysis | SNP | Genetic variation | Variant prioritization | VCF | Annotation | FORMAT | GENOME | FEATURES | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | SAMPLES | SEQUENCING DATA | Consortia | Datasets | Genetic variance | Algorithms | Annotations | Software | Genomes | Chromosomes | Bioinformatics | Data bases | Binding sites | Index Medicus
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 100, Issue 3, pp. 406 - 413
Journal Article
Bioinformatics, ISSN 1367-4803, 10/2018, Volume 34, Issue 19, pp. 3387 - 3389
Abstract Motivation Extracting biological insight from genomic data inevitably requires custom software. In many cases, this is accomplished with scripting... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY
Journal Article
Genome biology, 06/2016, Volume 17, Issue 1, p. 118
The integration of genome annotations is critical to the identification of genetic variants that are relevant to studies of disease or other traits. However,... 
Phenotype | Algorithms | Chromosomes - genetics | Genomics | Humans | Molecular Sequence Annotation - methods | Software | Genome, Human
Journal Article
Diabetes, ISSN 0012-1797, 03/2016, Volume 65, Issue 3, pp. 794 - 802
Journal Article
Bioinformatics, ISSN 1367-4803, 01/2010, Volume 26, Issue 6, pp. 841 - 842
Motivation: Testing for correlations between different sets of genomic features is a fundamental task in genomics research. However, searching for overlaps... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Software | Internet | Genome | Genomics - methods | Index Medicus | Applications Note
Journal Article
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 05/2019, Volume 116, Issue 19, pp. 9491 - 9500
Journal Article
GENOME RESEARCH, ISSN 1088-9051, 04/2019, Volume 29, Issue 4, pp. 532 - 542
Coding variants in epigenetic regulators are emerging as causes of neurological dysfunction and cancer. However, a comprehensive effort to identify disease... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | TRANSCRIPTION | MENDELIAN DISORDERS | CANCER GENOME | SCHIZOPHRENIA | IDENTIFICATION | DEMETHYLASES | HAPLOINSUFFICIENCY | DE-NOVO MUTATIONS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENES | GENETICS & HEREDITY | PROTEINS | Research
Journal Article
Bioinformatics, ISSN 1367-4803, 2014, Volume 30, Issue 23, pp. 3399 - 3401
Motivation: Nanopore sequencing may be the next disruptive technology in genomics, owing to its ability to detect single DNA molecules without prior... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Sequence Analysis, DNA - standards | Software | Nanopores | Sequence Analysis, DNA - methods | Index Medicus | Utilities | Format | Fragments | Tools | Nanostructure | Source code | Programming languages | Gene sequencing | Applications Notes
Journal Article
by Lange, Leslie A and Lange, Ethan M and Lange, Christoph and Hu, Youna and Zhang, Qunyuan and Zhang, Ji and Zhang, He and Xue, Chenyi and Schmidt, Ellen M and Tang, Hua and Tang, Zheng-Zheng and Bizon, Chris and Smith, Nicholas L and Smith, Joshua D and Smith, Albert V and Turner, Emily H and Jun, Goo and Kang, Hyun Min and Peloso, Gina and Auer, Paul L and Auer, Paul and Li, Kuo-ping and Li, Mingyao and Li, Yun and Li, Bingshan and Li, Dalin and Flannick, Jason and Fuchsberger, Christian and Gaulton, Kyle and Lindgren, Cecilia and Locke, Adam and Manning, Alisa and Sim, Xueling and Rivas, Manuel A and Holmen, Oddgeir L and Gottesman, Omri and Lu, Yingchang and Ruderfer, Douglas and Stahl, Eli A and Duan, Qing and Durda, Peter and Durda, J. Peter and Jiao, Shuo and Isaacs, Aaron and Hofman, Albert and Bis, Joshua C and Bis, Joshua and Correa, Adolfo and Griswold, Michael E and Jakobsdottir, Johanna and Schreiner, Pamela and Schreiner, Pamela J and Feitosa, Mary F and Huffman, Jennifer E and Crosby, Jacy and Wassel, Chrstina L and Wassel, Christina L and Do, Ron and Franceschini, Nora and Martin, Lisa and Martin, Lisa W and Martin, Thomas R and Robinson, Jennifer G and Assimes, Themistocles L and Crosslin, David R and Rosenthal, Elisabeth A and Tsai, Michael Y and Tsai, Michael and Rieder, Mark J and Farlow, Deborah N and Folsom, Aaron R and Lumley, Thomas and Fox, Ervin R and Fox, Caroline S and Fox, P. Keolu and Fox, Ervin and Carlson, Christopher S and Peters, Ulrike and Jackson, Rebecca D and Jackson, Rebecca and van Duijn, Cornelia M and Uitterlinden, André G and Levy, Daniel and Rotter, Jerome I and Taylor, Herman A and Taylor, Kira C and Taylor, Kent and Gudnason, Vilmundur and Siscovick, David S and Fornage, Myriam and Borecki, Ingrid B and Hayward, Caroline and Rudan, Igor and Chen, Wei-Min and Chen, Y. Eugene and Chen, Donna T and Chen, Ida Y and Bottinger, Erwin P and Loos, Ruth J.F and Sætrom, Pål and ... and NHLBI Grand Opportunity Exome Sequ and NHLBI Grand Opportunity Exome Sequencing Project and Genomik, diabetes och endokrinologi and Lund University and Genomics, Diabetes and Endocrinology and Lunds universitet and EXODIAB: Excellence in Diabetes Research in Sweden
The American Journal of Human Genetics, ISSN 0002-9297, 02/2014, Volume 94, Issue 2, pp. 233 - 245
Journal Article