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DELLY: structural variant discovery by integrated paired-end and split-read analysis
DELLY: structural variant discovery by integrated paired-end and split-read analysis
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DELLY: structural variant discovery by integrated paired-end and split-read analysis

Rausch, Tobias ; Zichner, Thomas ; Schlattl, Andreas ; Stütz, Adrian M ; Benes, Vladimir ; Korbel, Jan O

Bioinformatics, 2012-09, Vol.28 (18), p.i333-i339 [Periódico revisado por pares]

England: Oxford University Press

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2
Assembly and diploid architecture of an individual human genome via single-molecule technologies
Assembly and diploid architecture of an individual human genome via single-molecule technologies
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Assembly and diploid architecture of an individual human genome via single-molecule technologies

Pendleton, Matthew ; Sebra, Robert ; Pang, Andy Wing Chun ; Ummat, Ajay ; Franzen, Oscar ; Rausch, Tobias ; Stütz, Adrian M ; Stedman, William ; Anantharaman, Thomas ; Hastie, Alex ; Dai, Heng ; Fritz, Markus Hsi-Yang ; Cao, Han ; Cohain, Ariella ; Deikus, Gintaras ; Durrett, Russell E ; Blanchard, Scott C ; Altman, Roger ; Chin, Chen-Shan ; Guo, Yan ; Paxinos, Ellen E ; Korbel, Jan O ; Darnell, Robert B ; McCombie, W Richard ; Kwok, Pui-Yan ; Mason, Christopher E ; Schadt, Eric E ; Bashir, Ali

Nature methods, 2015-08, Vol.12 (8), p.780-786 [Periódico revisado por pares]

United States: Nature Publishing Group

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3
Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3)
Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3)
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Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3)

Coccé, Mariela C. ; Mardin, Balca R. ; Bens, Susanne ; Stütz, Adrian M. ; Lubieniecki, Fabiana ; Vater, Inga ; Korbel, Jan O. ; Siebert, Reiner ; Alonso, Cristina N. ; Gallego, Marta S.

Genes chromosomes & cancer, 2016-09, Vol.55 (9), p.677-687 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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4
Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library
Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library
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Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

Korbel, Jan O ; Gerstein, Mark B ; Lam, Hugo Y K ; Mu, Xinmeng Jasmine ; Stütz, Adrian M ; Tanzer, Andrea ; Cayting, Philip D ; Snyder, Michael ; Kim, Philip M

Nature biotechnology, 2010-01, Vol.28 (1), p.47-55 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads
Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads
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Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads

Moncunill, Valentí ; Gonzalez, Santi ; Beà, Sílvia ; Andrieux, Lise O ; Salaverria, Itziar ; Royo, Cristina ; Martinez, Laura ; Puiggròs, Montserrat ; Segura-Wang, Maia ; Stütz, Adrian M ; Navarro, Alba ; Royo, Romina ; Gelpí, Josep L ; Gut, Ivo G ; López-Otín, Carlos ; Orozco, Modesto ; Korbel, Jan O ; Campo, Elias ; Puente, Xose S ; Torrents, David

Nature biotechnology, 2014-11, Vol.32 (11), p.1106-1112 [Periódico revisado por pares]

United States: Nature Publishing Group

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6
Primate genome architecture influences structural variation mechanisms and functional consequences
Primate genome architecture influences structural variation mechanisms and functional consequences
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Primate genome architecture influences structural variation mechanisms and functional consequences

Gokcumen, Omer ; Tischler, Verena ; Tica, Jelena ; Zhu, Qihui ; Iskow, Rebecca C. ; Lee, Eunjung ; Fritz, Markus Hsi-Yang ; Langdon, Amy ; Stütz, Adrian M. ; Pavlidis, Pavlos ; Benes, Vladimir ; Mills, Ryan E. ; Park, Peter J. ; Lee, Charles ; Korbel, Jan O.

Proceedings of the National Academy of Sciences - PNAS, 2013-09, Vol.110 (39), p.15764-15769 [Periódico revisado por pares]

United States: National Academy of Sciences

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7
MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child
MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child
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MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child

Gatz, Susanne A. ; Salles, Daniela ; Jacobsen, Eva-Maria ; Dörk, Thilo ; Rausch, Tobias ; Aydin, Sevtap ; Surowy, Harald ; Volcic, Meta ; Vogel, Walther ; Debatin, Klaus-Michael ; Stütz, Adrian M. ; Schwarz, Klaus ; Pannicke, Ulrich ; Hess, Timo ; Korbel, Jan O. ; Schulz, Ansgar S. ; Schumacher, Johannes ; Wiesmüller, Lisa

Human mutation, 2016-03, Vol.37 (3), p.257-268 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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8
Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity
Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity
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Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity

Waszak, Sebastian M ; Hasin, Yehudit ; Zichner, Thomas ; Olender, Tsviya ; Keydar, Ifat ; Khen, Miriam ; Stütz, Adrian M ; Schlattl, Andreas ; Lancet, Doron ; Korbel, Jan O Wasserman, Wyeth W.

PLoS computational biology, 2010-11, Vol.6 (11), p.e1000988-e1000988 [Periódico revisado por pares]

United States: Public Library of Science

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9
Fine mapping of a QTL on chromosome 13 for submaximal exercise capacity training response: the HERITAGE Family Study
Fine mapping of a QTL on chromosome 13 for submaximal exercise capacity training response: the HERITAGE Family Study
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Fine mapping of a QTL on chromosome 13 for submaximal exercise capacity training response: the HERITAGE Family Study

Rice, Treva K. ; Sarzynski, Mark A. ; Sung, Yun Ju ; Argyropoulos, George ; Stütz, Adrian M. ; Teran-Garcia, Margarita ; Rao, D. C. ; Bouchard, Claude ; Rankinen, Tuomo

European journal of applied physiology, 2012-08, Vol.112 (8), p.2969-2978 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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10
Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study
Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study
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Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study

STIITZ, Adrian M ; TERAN-GARCIA, Margarita ; RAO, D. C ; RICE, Treva ; BOUCHARD, Claude ; RANKINEN, Tuomo

European journal of human genetics : EJHG, 2009-11, Vol.17 (11), p.1481-1489 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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