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Cell, ISSN 0092-8674, 09/2013, Volume 155, Issue 1, p. 27
Genomics is a relatively new scientific discipline, having DNA sequencing as its core technology. As technology has improved the cost and scale of genome... 
Journal Article
1990, ISBN 0688078192, xiv, 1378 p., [32] p. of plates
Book
1996, 2nd ed., ISBN 0688144780, xvi, 1438
Book
Current Protocols in Bioinformatics, ISSN 1934-3396, 2013, Volume 44, Issue 44, p. 15.4.1
The identification of small sequence variants remains a challenging but critical step in the analysis of next-generation sequencing data. Our variant calling... 
Indels | Mutation detection | Next-generation sequencing | Varscan 2 | Trio calling | Snvs | Variant calling | Sequence Alignment | Software | Germ Cells - metabolism | Genome | Mutation - genetics | Humans
Journal Article
Bioinformatics, ISSN 1367-4803, 9/2009, Volume 25, Issue 17, pp. 2283 - 2285
Massively parallel sequencing technologies hold incredible promise for the study of DNA sequence variation, particularly the identification of variants... 
HUMAN GENOME | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Polymorphism, Single Nucleotide - genetics | Computational Biology - methods | Software | Sequence Analysis, DNA - methods | Humans | Index Medicus | Applications Note
Journal Article
Bioinformatics, ISSN 1367-4803, 2/2012, Volume 28, Issue 3, pp. 311 - 317
Motivation: The sequencing of tumors and their matched normals is frequently used to study the genetic composition of cancer. Despite this fact, there remains... 
CATALOG | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | CANCER GENOME | ACUTE MYELOID-LEUKEMIA | ARID1A | TUMORS | Point Mutation | Polymorphism, Single Nucleotide | Software | Neoplasms - genetics | Genome, Human | Humans | Index Medicus | Original Papers
Journal Article
1992, Instructor's annotated ed., ISBN 0669278971, 89, xx, 726, 86
Book
Nature, ISSN 0028-0836, 01/2012, Volume 481, Issue 7382, pp. 506 - 510
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 03/2012, Volume 366, Issue 12, pp. 1090 - 1098
Journal Article
Cell, ISSN 0092-8674, 11/2017, Volume 171, Issue 6, pp. 1437 - 1452.e17
Journal Article
by Weinstein, John N and Collisson, Eric A and Mills, Gordon B and Shaw, Kenna R Mills and Ozenberger, Brad A and Ellrott, Kyle and Sander, Chris and Stuart, Joshua M and Chang, Kyle and Creighton, Chad J and Davis, Caleb and Donehower, Lawrence and Drummond, Jennifer and Wheeler, David and Ally, Adrian and Balasundaram, Miruna and Birol, Inanc and Butterfield, Yaron S.N and Chu, Andy and Chuah, Eric and Chun, Hye-Jung E and Dhalla, Noreen and Guin, Ranabir and Hirst, Martin and Hirst, Carrie and Holt, Robert A and Jones, Steven J.M and Lee, Darlene and Li, Haiyan I and Marra, Marco A and Mayo, Michael and Moore, Richard A and Mungall, Andrew J and Robertson, A Gordon and Schein, Jacqueline E and Sipahimalani, Payal and Tam, Angela and Thiessen, Nina and Varhol, Richard J and Beroukhim, Rameen and Bhatt, Ami S and Brooks, Angela N and Cherniack, Andrew D and Freeman, Samuel S and Gabriel, Stacey B and Helman, Elena and Jung, Joonil and Meyerson, Matthew and Ojesina, Akinyemi I and Pedamallu, Chandra Sekhar and Saksena, Gordon and Schumacher, Steven E and Tabak, Barbara and Zack, Travis and Lander, Eric S and Bristow, Christopher A and Hadjipanayis, Angela and Haseley, Psalm and Kucherlapati, Raju and Lee, Semin and Lee, Eunjung and Luquette, Lovelace J and Mahadeshwar, Harshad S and Pantazi, Angeliki and Parfenov, Michael and Park, Peter J and Protopopov, Alexei and Ren, Xiaojia and Santoso, Netty and Seidman, Jonathan and Seth, Sahil and Song, Xingzhi and Tang, Jiabin and Xi, Ruibin and Xu, Andrew W and Yang, Lixing and Zeng, Dong and Auman, J Todd and Balu, Saianand and Buda, Elizabeth and Fan, Cheng and Hoadley, Katherine A and Jones, Corbin D and Meng, Shaowu and Mieczkowski, Piotr A and Parker, Joel S and Perou, Charles M and Roach, Jeffrey and Shi, Yan and Silva, Grace O and Tan, Donghui and Veluvolu, Umadevi and Waring, Scot and Wilkerson, Matthew D and Wu, Junyuan and Zhao, Wei and Bodenheimer, Tom and Hayes, D Neil and Hoyle, Alan P and Jeffreys, Stuart R and ... and Canc Genome Atlas Res Network and Cancer Genome Atlas Research Network and The Cancer Genome Atlas Research Network and Department of Mathematical Sciences, Mathematical Statistics and Naturvetenskapliga fakulteten and Institutionen för matematiska vetenskaper, matematisk statistik and Faculty of Sciences and Göteborgs universitet and Gothenburg University
Nature Genetics, ISSN 1061-4036, 10/2013, Volume 45, Issue 10, pp. 1113 - 1120
The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA,... 
ONCOGENE | FUSION | GENE | GENETICS & HEREDITY | MUTATIONS | IDENTIFICATION | HALLMARKS | Gene Expression Profiling | Neoplasms - genetics | Genome | Neoplasms - pathology | Humans | Medical research | Breast cancer | Mutation | Genomics | Tumors | Index Medicus | Genetik | Medicinsk genetik | Medical Genetics | Genetics
Journal Article