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Nature (London), ISSN 1476-4687, 2013, Volume 501, Issue 7468, pp. 506 - 511
Genome sequencing projects are discovering millions of genetic variants in humans, and interpretation of their functional effects is essential for... 
POPULATION | VARIANTS | QTLS | LANDSCAPE | HUMAN GENE-EXPRESSION | MULTIDISCIPLINARY SCIENCES | Studies | Population | Genomes | Gene expression | Genomics | Quality control
Journal Article
by Djebali, Sarah and Davis, Carrie A and Merkel, Angelika and Dobin, Alex and Lassmann, Timo and Mortazavi, Ali and Tanzer, Andrea and Lagarde, Julien and Lin, Wei and Schlesinger, Felix and Xue, Chenghai and Marinov, Georgi K and Khatun, Jainab and Williams, Brian A and Zaleski, Chris and Rozowsky, Joel and Röder, Maik and Kokocinski, Felix and Abdelhamid, Rehab F and Alioto, Tyler and Antoshechkin, Igor and Baer, Michael T and Bar, Nadav S and Batut, Philippe and Bell, Kimberly and Bell, Ian and Chakrabortty, Sudipto and Chen, Xian and Chrast, Jacqueline and Curado, Joao and Derrien, Thomas and Drenkow, Jorg and Dumais, Erica and Dumais, Jacqueline and Duttagupta, Radha and Falconnet, Emilie and Fastuca, Meagan and Fejes-Toth, Kata and Ferreira, Pedro and Foissac, Sylvain and Fullwood, Melissa J and Gao, Hui and Gonzalez, David and Gordon, Assaf and Gunawardena, Harsha and Howald, Cedric and Jha, Sonali and Johnson, Rory and Kapranov, Philipp and King, Brandon and Kingswood, Colin and Luo, Oscar J and Park, Eddie and Persaud, Kimberly and Preall, Jonathan B and Ribeca, Paolo and Risk, Brian and Robyr, Daniel and Sammeth, Michael and Schaffer, Lorian and See, Lei-Hoon and Shahab, Atif and Skancke, Jorgen and Suzuki, Ana Maria and Takahashi, Hazuki and Tilgner, Hagen and Trout, Diane and Walters, Nathalie and Wang, Huaien and Wrobel, John and Yu, Yanbao and Ruan, Xiaoan and Hayashizaki, Yoshihide and Harrow, Jennifer and Gerstein, Mark and Hubbard, Tim and Reymond, Alexandre and Antonarakis, Stylianos E and Hannon, Gregory and Giddings, Morgan C and Ruan, Yijun and Wold, Barbara and Carninci, Piero and Guigó, Roderic and Gingeras, Thomas R
Nature (London), ISSN 1476-4687, 2012, Volume 489, Issue 7414, pp. 101 - 108
Journal Article
Nature (London), ISSN 1476-4687, 2012, Volume 485, Issue 7400, pp. 635 - 641
Journal Article
Nucleic acids research, ISSN 0305-1048, 07/2016, Volume 44, Issue 12, pp. e114 - e114
The recent super-exponential growth in the amount of sequencing data generated worldwide has put techniques for compressed storage into the focus. Most... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | Computational Biology - methods | Data Compression - methods | Algorithms | Information Storage and Retrieval - methods | Genomics | Software | Genome | Methods Online
Journal Article
by Alioto, Tyler S and Buchhalter, Ivo and Derdak, Sophia and Hutter, Barbara and Eldridge, Matthew D and Hovig, Eivind and Heisler, Lawrence E and Beck, Timothy A and Simpson, Jared T and Tonon, Laurie and Sertier, Anne-Sophie and Patch, Ann-Marie and Jäger, Natalie and Ginsbach, Philip and Drews, Ruben and Paramasivam, Nagarajan and Kabbe, Rolf and Chotewutmontri, Sasithorn and Diessl, Nicolle and Previti, Christopher and Schmidt, Sabine and Brors, Benedikt and Feuerbach, Lars and Heinold, Michael and Gröbner, Susanne and Korshunov, Andrey and Tarpey, Patrick S and Butler, Adam P and Hinton, Jonathan and Jones, David and Menzies, Andrew and Raine, Keiran and Shepherd, Rebecca and Stebbings, Lucy and Teague, Jon W and Ribeca, Paolo and Giner, Francesc Castro and Beltran, Sergi and Raineri, Emanuele and Dabad, Marc and Heath, Simon C and Gut, Marta and Denroche, Robert E and Harding, Nicholas J and Yamaguchi, Takafumi N and Fujimoto, Akihiro and Nakagawa, Hidewaki and Quesada, Víctor and Valdés-Mas, Rafael and Nakken, Sigve and Vodák, Daniel and Bower, Lawrence and Lynch, Andrew G and Anderson, Charlotte L and Waddell, Nicola and Pearson, John V and Grimmond, Sean M and Peto, Myron and Spellman, Paul and He, Minghui and Kandoth, Cyriac and Lee, Semin and Zhang, John and Létourneau, Louis and Ma, Singer and Seth, Sahil and Torrents, David and Xi, Liu and Wheeler, David A and López-Otín, Carlos and Campo, Elías and Campbell, Peter J and Boutros, Paul C and Puente, Xose S and Gerhard, Daniela S and Pfister, Stefan M and McPherson, John D and Hudson, Thomas J and Schlesner, Matthias and Lichter, Peter and Eils, Roland and Jones, David T. W and Gut, Ivo G
Nature communications, ISSN 2041-1723, 2015, Volume 6, Issue 1, p. 10001
..., Andrew Menzies16, Keiran Raine16, Rebecca Shepherd16, Lucy Stebbings16,Jon W. Teague16, Paolo Ribeca1,2, Francesc Castro Giner1,2, Sergi Beltran1,2, Emanuele... 
POINT MUTATIONS | EXOME | ACCURATE | VARIANT ANALYSIS | SIGNATURES | ALIGNMENT | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | Mutation | Genome, Human | High-Throughput Nucleotide Sequencing - methods | Medulloblastoma - genetics | Humans | Leukemia, Lymphoid - genetics | Càncer | Medical genetics | Mutació (Biologia) | Genètica mèdica | Genètica humana | Human genetics | Mutation (Biology) | Cancer
Journal Article