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  • Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.

    Published in:
    2021
    By:
    • Wang, Qingbo;
    • Pierce-Hoffman, Emma;
    • Cummings, Beryl B.;
    • Alföldi, Jessica;
    • Francioli, Laurent C.;
    • Gauthier, Laura D.;
    • Hill, Andrew J.;
    • O'Donnell-Luria, Anne H.;
    • Genome Aggregation Database Production Team;
    • Armean, Irina M.;
    • Banks, Eric;
    • Bergelson, Louis;
    • Cibulskis, Kristian;
    • Collins, Ryan L.;
    • Connolly, Kristen M.;
    • Covarrubias, Miguel;
    • Daly, Mark J.;
    • Donnelly, Stacey;
    • Farjoun, Yossi;
    • Ferriera, Steven
    Publication type:
    Correction Notice

  • Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

    Published in:
    2021
    By:
    • Whiffin, Nicola;
    • Karczewski, Konrad J.;
    • Zhang, Xiaolei;
    • Chothani, Sonia;
    • Smith, Miriam J.;
    • Evans, D. Gareth;
    • Roberts, Angharad M.;
    • Quaife, Nicholas M.;
    • Schafer, Sebastian;
    • Rackham, Owen;
    • Alföldi, Jessica;
    • O'Donnell-Luria, Anne H.;
    • Francioli, Laurent C.;
    • Genome Aggregation Database Production Team;
    • Armean, Irina M.;
    • Banks, Eric;
    • Bergelson, Louis;
    • Cibulskis, Kristian;
    • Collins, Ryan L.;
    • Connolly, Kristen M.
    Publication type:
    Correction Notice

  • Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-12438-5
    By:
    • Wang, Qingbo;
    • Pierce-Hoffman, Emma;
    • Cummings, Beryl B.;
    • Alföldi, Jessica;
    • Francioli, Laurent C.;
    • Gauthier, Laura D.;
    • Hill, Andrew J.;
    • O'Donnell-Luria, Anne H.;
    • Genome Aggregation Database Production Team;
    • Armean, Irina M.;
    • Banks, Eric;
    • Bergelson, Louis;
    • Cibulskis, Kristian;
    • Collins, Ryan L.;
    • Connolly, Kristen M.;
    • Covarrubias, Miguel;
    • Daly, Mark J.;
    • Donnelly, Stacey;
    • Farjoun, Yossi;
    • Ferriera, Steven
    Publication type:
    Article

  • Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-10717-9
    By:
    • Whiffin, Nicola;
    • Karczewski, Konrad J.;
    • Zhang, Xiaolei;
    • Chothani, Sonia;
    • Smith, Miriam J.;
    • Evans, D. Gareth;
    • Roberts, Angharad M.;
    • Quaife, Nicholas M.;
    • Schafer, Sebastian;
    • Rackham, Owen;
    • Alföldi, Jessica;
    • O'Donnell-Luria, Anne H.;
    • Francioli, Laurent C.;
    • Genome Aggregation Database Production Team;
    • Armean, Irina M.;
    • Banks, Eric;
    • Bergelson, Louis;
    • Cibulskis, Kristian;
    • Collins, Ryan L.;
    • Connolly, Kristen M.
    Publication type:
    Article

  • Systematic genomic and translational efficiency studies of uveal melanoma.

    Published in:
    PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178189
    By:
    • Johnson, Chelsea Place;
    • Kim, Ivana K.;
    • Esmaeli, Bita;
    • Amin-Mansour, Ali;
    • Treacy, Daniel J.;
    • Carter, Scott L.;
    • Hodis, Eran;
    • Wagle, Nikhil;
    • Seepo, Sara;
    • Yu, Xiaoxing;
    • Lane, Anne Marie;
    • Gragoudas, Evangelos S.;
    • Vazquez, Francisca;
    • Nickerson, Elizabeth;
    • Cibulskis, Kristian;
    • McKenna, Aaron;
    • Gabriel, Stacey B.;
    • Getz, Gad;
    • Van Allen, Eliezer M.;
    • ‘t Hoen, Peter A. C.
    Publication type:
    Article

  • Comprehensive analysis of cancer-associated somatic mutations in class I HLA genes.

    Published in:
    Nature Biotechnology, 2015, v. 33, n. 11, p. 1152, doi. 10.1038/nbt.3344
    By:
    • Shukla, Sachet A;
    • Rooney, Michael S;
    • Rajasagi, Mohini;
    • Tiao, Grace;
    • Dixon, Philip M;
    • Lawrence, Michael S;
    • Stevens, Jonathan;
    • Lane, William J;
    • Dellagatta, Jamie L;
    • Steelman, Scott;
    • Sougnez, Carrie;
    • Cibulskis, Kristian;
    • Kiezun, Adam;
    • Hacohen, Nir;
    • Brusic, Vladimir;
    • Wu, Catherine J;
    • Getz, Gad
    Publication type:
    Article

  • Mutations driving CLL and their evolution in progression and relapse.

    Published in:
    Nature, 2015, v. 526, n. 7574, p. 525, doi. 10.1038/nature15395
    By:
    • Landau, Dan A.;
    • Tausch, Eugen;
    • Taylor-Weiner, Amaro N.;
    • Stewart, Chip;
    • Reiter, Johannes G.;
    • Bahlo, Jasmin;
    • Kluth, Sandra;
    • Bozic, Ivana;
    • Lawrence, Mike;
    • Böttcher, Sebastian;
    • Carter, Scott L.;
    • Cibulskis, Kristian;
    • Mertens, Daniel;
    • Sougnez, Carrie L.;
    • Rosenberg, Mara;
    • Hess, Julian M.;
    • Edelmann, Jennifer;
    • Kless, Sabrina;
    • Kneba, Michael;
    • Ritgen, Matthias
    Publication type:
    Article

  • Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

    Published in:
    Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0167-x
    By:
    • Shankar, Ganesh;
    • Taylor-Weiner, Amaro;
    • Lelic, Nina;
    • Jones, Robert;
    • Kim, James;
    • Francis, Joshua;
    • Abedalthagafi, Malak;
    • Borges, Lawrence;
    • Coumans, Jean-Valery;
    • Curry, William;
    • Nahed, Brian;
    • Shin, John;
    • Paek, Sun;
    • Park, Sung-Hye;
    • Stewart, Chip;
    • Lawrence, Michael;
    • Cibulskis, Kristian;
    • Thorner, Aaron;
    • Van Hummelen, Paul;
    • Stemmer-Rachamimov, Anat
    Publication type:
    Article

  • RNF43 is frequently mutated in colorectal and endometrial cancers.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1264, doi. 10.1038/ng.3127
    By:
    • Giannakis, Marios;
    • Van Allen, Eliezer M;
    • Hahn, William C;
    • Garraway, Levi A;
    • Fuchs, Charles S;
    • Hodis, Eran;
    • Jasmine Mu, Xinmeng;
    • Rosenbluh, Joseph;
    • Yamauchi, Mai;
    • Qian, Zhi Rong;
    • Cibulskis, Kristian;
    • Saksena, Gordon;
    • Lawrence, Michael S;
    • Gabriel, Stacey B;
    • Nishihara, Reiko;
    • Lander, Eric S;
    • Getz, Gad;
    • Ogino, Shuji
    Publication type:
    Article

  • Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab.

    Published in:
    Molecular Cancer, 2014, v. 13, n. 1, p. 1, doi. 10.1186/1476-4598-13-141
    By:
    • Jeonghee Cho;
    • Bass, Adam J.;
    • Lawrence, Michael S.;
    • Cibulskis, Kristian;
    • Ahye Cho;
    • Shi-Nai Lee;
    • Yamauchi, Mai;
    • Wagle, Nikhil;
    • Pochanard, Panisa;
    • Nayoung Kim;
    • Park, Angela K. J.;
    • Jonghwa Won;
    • Hyung-Suk Hur;
    • Greulich, Heidi;
    • Ogino, Shuji;
    • Sougnez, Carrie;
    • Voet, Douglas;
    • Tabernero, Josep;
    • Jimenez, Jose;
    • Baselga, Jose
    Publication type:
    Article

  • Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.

    Published in:
    Nature Medicine, 2014, v. 20, n. 6, p. 682, doi. 10.1038/nm.3559
    By:
    • Van Allen, Eliezer M;
    • Wagle, Nikhil;
    • Stojanov, Petar;
    • Perrin, Danielle L;
    • Cibulskis, Kristian;
    • Marlow, Sara;
    • Jane-Valbuena, Judit;
    • Friedrich, Dennis C;
    • Kryukov, Gregory;
    • Carter, Scott L;
    • McKenna, Aaron;
    • Sivachenko, Andrey;
    • Rosenberg, Mara;
    • Kiezun, Adam;
    • Voet, Douglas;
    • Lawrence, Michael;
    • Lichtenstein, Lee T;
    • Gentry, Jeff G;
    • Huang, Franklin W;
    • Fostel, Jennifer
    Publication type:
    Article

  • Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer.

    Published in:
    Nature Biotechnology, 2014, v. 32, n. 5, p. 479, doi. 10.1038/nbt.2892
    By:
    • Lohr, Jens G;
    • Adalsteinsson, Viktor A;
    • Cibulskis, Kristian;
    • Choudhury, Atish D;
    • Rosenberg, Mara;
    • Cruz-Gordillo, Peter;
    • Francis, Joshua M;
    • Zhang, Cheng-Zhong;
    • Shalek, Alex K;
    • Satija, Rahul;
    • Trombetta, John J;
    • Lu, Diana;
    • Tallapragada, Naren;
    • Tahirova, Narmin;
    • Kim, Sora;
    • Blumenstiel, Brendan;
    • Sougnez, Carrie;
    • Lowe, Alarice;
    • Wong, Bang;
    • Auclair, Daniel
    Publication type:
    Article

  • Landscape of genomic alterations in cervical carcinomas.

    Published in:
    Nature, 2014, v. 506, n. 7488, p. 371, doi. 10.1038/nature12881
    By:
    • Ojesina, Akinyemi I.;
    • Lichtenstein, Lee;
    • Freeman, Samuel S.;
    • Pedamallu, Chandra Sekhar;
    • Imaz-Rosshandler, Ivan;
    • Pugh, Trevor J.;
    • Cherniack, Andrew D.;
    • Ambrogio, Lauren;
    • Cibulskis, Kristian;
    • Bertelsen, Bjørn;
    • Romero-Cordoba, Sandra;
    • Treviño, Victor;
    • Vazquez-Santillan, Karla;
    • Guadarrama, Alberto Salido;
    • Wright, Alexi A.;
    • Rosenberg, Mara W.;
    • Duke, Fujiko;
    • Kaplan, Bethany;
    • Wang, Rui;
    • Nickerson, Elizabeth
    Publication type:
    Article

  • Mutational heterogeneity in cancer and the search for new cancer-associated genes.

    Published in:
    Nature, 2013, v. 499, n. 7457, p. 214, doi. 10.1038/nature12213
    By:
    • Lawrence, Michael S.;
    • Stojanov, Petar;
    • Polak, Paz;
    • Kryukov, Gregory V.;
    • Cibulskis, Kristian;
    • Sivachenko, Andrey;
    • Carter, Scott L.;
    • Stewart, Chip;
    • Mermel, Craig H.;
    • Roberts, Steven A.;
    • Kiezun, Adam;
    • Hammerman, Peter S.;
    • McKenna, Aaron;
    • Drier, Yotam;
    • Zou, Lihua;
    • Ramos, Alex H.;
    • Pugh, Trevor J.;
    • Stransky, Nicolas;
    • Helman, Elena;
    • Kim, Jaegil
    Publication type:
    Article

  • Comprehensive molecular characterization of clear cell renal cell carcinoma.

    Published in:
    Nature, 2013, v. 499, n. 7456, p. 43, doi. 10.1038/nature12222
    By:
    • Creighton, Chad J.;
    • Morgan, Margaret;
    • Gunaratne, Preethi H.;
    • Wheeler, David A.;
    • Gibbs, Richard A.;
    • Gordon Robertson, A.;
    • Chu, Andy;
    • Beroukhim, Rameen;
    • Cibulskis, Kristian;
    • Signoretti, Sabina;
    • Vandin Hsin-Ta Wu, Fabio;
    • Raphael, Benjamin J.;
    • Verhaak, Roel G. W.;
    • Tamboli, Pheroze;
    • Torres-Garcia, Wandaliz;
    • Akbani, Rehan;
    • Weinstein, John N.;
    • Reuter, Victor;
    • Hsieh, James J.;
    • Rose Brannon, A.
    Publication type:
    Article

  • Integrated genomic characterization of endometrial carcinoma.

    Published in:
    Nature, 2013, v. 497, n. 7447, p. 67, doi. 10.1038/nature12113
    By:
    • Getz, Gad;
    • Gabriel, Stacey B.;
    • Cibulskis, Kristian;
    • Lander, Eric;
    • Sivachenko, Andrey;
    • Sougnez, Carrie;
    • Lawrence, Mike;
    • Kandoth, Cyriac;
    • Dooling, David;
    • Fulton, Robert;
    • Fulton, Lucinda;
    • Kalicki-Veizer, Joelle;
    • McLellan, Michael D.;
    • O'Laughlin, Michelle;
    • Schmidt, Heather;
    • Wilson, Richard K.;
    • Ye, Kai;
    • Ding, Li;
    • Mardis, Elaine R.;
    • Ally, Adrian
    Publication type:
    Article

  • Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 478, doi. 10.1038/ng.2591
    By:
    • Dulak, Austin M;
    • Stojanov, Petar;
    • Peng, Shouyong;
    • Lawrence, Michael S;
    • Fox, Cameron;
    • Stewart, Chip;
    • Bandla, Santhoshi;
    • Imamura, Yu;
    • Schumacher, Steven E;
    • Shefler, Erica;
    • McKenna, Aaron;
    • Carter, Scott L;
    • Cibulskis, Kristian;
    • Sivachenko, Andrey;
    • Saksena, Gordon;
    • Voet, Douglas;
    • Ramos, Alex H;
    • Auclair, Daniel;
    • Thompson, Kristin;
    • Sougnez, Carrie
    Publication type:
    Article

  • Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples.

    Published in:
    Nature Biotechnology, 2013, v. 31, n. 3, p. 213, doi. 10.1038/nbt.2514
    By:
    • Cibulskis, Kristian;
    • Lawrence, Michael S;
    • Carter, Scott L;
    • Sivachenko, Andrey;
    • Jaffe, David;
    • Sougnez, Carrie;
    • Gabriel, Stacey;
    • Meyerson, Matthew;
    • Lander, Eric S;
    • Getz, Gad
    Publication type:
    Article

  • The genetic landscape of high-risk neuroblastoma.

    Published in:
    Nature Genetics, 2013, v. 45, n. 3, p. 279, doi. 10.1038/ng.2529
    By:
    • Pugh, Trevor J;
    • Morozova, Olena;
    • Attiyeh, Edward F;
    • Asgharzadeh, Shahab;
    • Wei, Jun S;
    • Auclair, Daniel;
    • Carter, Scott L;
    • Cibulskis, Kristian;
    • Hanna, Megan;
    • Kiezun, Adam;
    • Kim, Jaegil;
    • Lawrence, Michael S;
    • Lichenstein, Lee;
    • McKenna, Aaron;
    • Pedamallu, Chandra Sekhar;
    • Ramos, Alex H;
    • Shefler, Erica;
    • Sivachenko, Andrey;
    • Sougnez, Carrie;
    • Stewart, Chip
    Publication type:
    Article

  • Prognostically relevant gene signatures of high-grade serous ovarian carcinoma.

    Published in:
    Journal of Clinical Investigation, 2013, v. 123, n. 1, p. 517, doi. 10.1172/JCI65833
    By:
    • Verhaak, Roel G. W.;
    • Tamayo, Pablo;
    • Ji-Yeon Yang;
    • Hubbard, Diana;
    • Zhang, Hailei;
    • Creighton, Chad J.;
    • Fereday, Sian;
    • Lawrence, Michael;
    • Carter, Scott L.;
    • Mermel, Craig H.;
    • Kostic, Aleksandar D.;
    • Etemadmoghadam, Dariush;
    • Saksena, Gordon;
    • Cibulskis, Kristian;
    • Duraisamy, Sekhar;
    • Levanon, Keren;
    • Sougnez, Carrie;
    • Tsherniak, Aviad;
    • Gomez, Sebastian;
    • Onofrio, Robert
    Publication type:
    Article

  • A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.

    Published in:
    Human Mutation, 2012, v. 33, n. 12, p. 1639, doi. 10.1002/humu.22237
    By:
    • Puffenberger, Erik G.;
    • Jinks, Robert N.;
    • Wang, Heng;
    • Xin, Baozhong;
    • Fiorentini, Christopher;
    • Sherman, Eric A.;
    • Degrazio, Dominick;
    • Shaw, Calvin;
    • Sougnez, Carrie;
    • Cibulskis, Kristian;
    • Gabriel, Stacey;
    • Kelley, Richard I.;
    • Morton, D. Holmes;
    • Strauss, Kevin A.
    Publication type:
    Article

  • Comprehensive genomic characterization of squamous cell lung cancers.

    Published in:
    Nature, 2012, v. 489, n. 7417, p. 519, doi. 10.1038/nature11404
    By:
    • Hammerman, Peter S.;
    • Lawrence, Michael S.;
    • Voet, Douglas;
    • Jing, Rui;
    • Cibulskis, Kristian;
    • Sivachenko, Andrey;
    • Stojanov, Petar;
    • McKenna, Aaron;
    • Lander, Eric S.;
    • Gabriel, Stacey;
    • Getz, Gad;
    • Sougnez, Carrie;
    • Imielinski, Marcin;
    • Helman, Elena;
    • Hernandez, Bryan;
    • Pho, Nam H.;
    • Meyerson, Matthew;
    • Chu, Andy;
    • Chun, Hye-Jung E.;
    • Mungall, Andrew J.
    Publication type:
    Article

  • A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers.

    Published in:
    Journal of Clinical Investigation, 2012, v. 122, n. 8, p. 2983, doi. 10.1172/JCI64400
    By:
    • Lee, Ryan S.;
    • Stewart, Chip;
    • Carter, Scott L.;
    • Ambrogio, Lauren;
    • Cibulskis, Kristian;
    • Sougnez, Carrie;
    • Lawrence, Michael S.;
    • Auclair, Daniel;
    • Mora, Jaume;
    • Golub, Todd R.;
    • Biegel, Jaclyn A.;
    • Getz, Gad;
    • Roberts, Charles W. M.
    Publication type:
    Article

  • Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations.

    Published in:
    Nature, 2012, v. 488, n. 7409, p. 106, doi. 10.1038/nature11329
    By:
    • Pugh, Trevor J.;
    • Weeraratne, Shyamal Dilhan;
    • Archer, Tenley C.;
    • Pomeranz Krummel, Daniel A.;
    • Auclair, Daniel;
    • Bochicchio, James;
    • Carneiro, Mauricio O.;
    • Carter, Scott L.;
    • Cibulskis, Kristian;
    • Erlich, Rachel L.;
    • Greulich, Heidi;
    • Lawrence, Michael S.;
    • Lennon, Niall J.;
    • McKenna, Aaron;
    • Meldrim, James;
    • Ramos, Alex H.;
    • Ross, Michael G.;
    • Russ, Carsten;
    • Shefler, Erica;
    • Sivachenko, Andrey
    Publication type:
    Article

  • Sequence analysis of mutations and translocations across breast cancer subtypes.

    Published in:
    Nature, 2012, v. 486, n. 7403, p. 405, doi. 10.1038/nature11154
    By:
    • Banerji, Shantanu;
    • Cibulskis, Kristian;
    • Rangel-Escareno, Claudia;
    • Brown, Kristin K.;
    • Carter, Scott L.;
    • Frederick, Abbie M.;
    • Lawrence, Michael S.;
    • Sivachenko, Andrey Y.;
    • Sougnez, Carrie;
    • Zou, Lihua;
    • Cortes, Maria L.;
    • Fernandez-Lopez, Juan C.;
    • Peng, Shouyong;
    • Ardlie, Kristin G.;
    • Auclair, Daniel;
    • Bautista-Piña, Veronica;
    • Duke, Fujiko;
    • Francis, Joshua;
    • Jung, Joonil;
    • Maffuz-Aziz, Antonio
    Publication type:
    Article

  • Melanoma genome sequencing reveals frequent PREX2 mutations.

    Published in:
    Nature, 2012, v. 485, n. 7399, p. 502, doi. 10.1038/nature11071
    By:
    • Berger, Michael F.;
    • Hodis, Eran;
    • Heffernan, Timothy P.;
    • Deribe, Yonathan Lissanu;
    • Lawrence, Michael S.;
    • Protopopov, Alexei;
    • Ivanova, Elena;
    • Watson, Ian R.;
    • Nickerson, Elizabeth;
    • Ghosh, Papia;
    • Zhang, Hailei;
    • Zeid, Rhamy;
    • Ren, Xiaojia;
    • Cibulskis, Kristian;
    • Sivachenko, Andrey Y.;
    • Wagle, Nikhil;
    • Sucker, Antje;
    • Sougnez, Carrie;
    • Onofrio, Robert;
    • Ambrogio, Lauren
    Publication type:
    Article

  • Absolute quantification of somatic DNA alterations in human cancer.

    Published in:
    Nature Biotechnology, 2012, v. 30, n. 5, p. 413, doi. 10.1038/nbt.2203
    By:
    • Carter, Scott L;
    • Cibulskis, Kristian;
    • Helman, Elena;
    • McKenna, Aaron;
    • Shen, Hui;
    • Zack, Travis;
    • Laird, Peter W;
    • Onofrio, Robert C;
    • Winckler, Wendy;
    • Weir, Barbara A;
    • Beroukhim, Rameen;
    • Pellman, David;
    • Levine, Douglas A;
    • Lander, Eric S;
    • Meyerson, Matthew;
    • Getz, Gad
    Publication type:
    Article

  • Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases.

    Published in:
    PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0028936
    By:
    • Puffenberger, Erik G.;
    • Jinks, Robert N.;
    • Sougnez, Carrie;
    • Cibulskis, Kristian;
    • Willert, Rebecca A.;
    • Achilly, Nathan P.;
    • Cassidy, Ryan P.;
    • Fiorentini, Christopher J.;
    • Heiken, Kory F.;
    • Lawrence, Johnny J.;
    • Mahoney, Molly H.;
    • Miller, Christopher J.;
    • Nair, Devika T.;
    • Politi, Kristin A.;
    • Worcester, Kimberly N.;
    • Setton, Roni A.;
    • DiPiazza, Rosa;
    • Sherman, Eric A.;
    • Eastman, James T.;
    • Francklyn, Christopher
    Publication type:
    Article

  • Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion.

    Published in:
    Nature Genetics, 2011, v. 43, n. 10, p. 964, doi. 10.1038/ng.936
    By:
    • Bass, Adam J;
    • Lawrence, Michael S;
    • Brace, Lear E;
    • Ramos, Alex H;
    • Drier, Yotam;
    • Cibulskis, Kristian;
    • Sougnez, Carrie;
    • Voet, Douglas;
    • Saksena, Gordon;
    • Sivachenko, Andrey;
    • Jing, Rui;
    • Parkin, Melissa;
    • Pugh, Trevor;
    • Verhaak, Roel G;
    • Stransky, Nicolas;
    • Boutin, Adam T;
    • Barretina, Jordi;
    • Solit, David B;
    • Vakiani, Evi;
    • Shao, Wenlin
    Publication type:
    Article

  • ContEst: estimating cross-contamination of human samples in next-generation sequencing data.

    Published in:
    Bioinformatics, 2011, v. 27, n. 18, p. 2601, doi. 10.1093/bioinformatics/btr446
    By:
    • Cibulskis, Kristian;
    • McKenna, Aaron;
    • Fennell, Tim;
    • Banks, Eric;
    • DePristo, Mark;
    • Getz, Gad
    Publication type:
    Article

  • The functional spectrum of low-frequency coding variation.

    Published in:
    Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r84
    By:
    • Marth, Gabor T.;
    • Fuli Yu;
    • Indap, Amit R.;
    • Garimella, Kiran;
    • Gravel, Simon;
    • Leong, Wen Fung;
    • Tyler-Smith, Chris;
    • Bainbridge, Matthew;
    • Blackwell, Tom;
    • Zheng-Bradley, Xiangqun;
    • Chen, Yuan;
    • Challis, Danny;
    • Clarke, Laura;
    • Ball, Edward V.;
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