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A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
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A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

Trost, Brett ; Walker, Susan ; Wang, Zhuozhi ; Thiruvahindrapuram, Bhooma ; MacDonald, Jeffrey R. ; Sung, Wilson W.L. ; Pereira, Sergio L. ; Whitney, Joe ; Chan, Ada J.S. ; Pellecchia, Giovanna ; Reuter, Miriam S. ; Lok, Si ; Yuen, Ryan K.C. ; Marshall, Christian R. ; Merico, Daniele ; Scherer, Stephen W.

American journal of human genetics, 2018-01, Vol.102 (1), p.142-155 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Reassessing the determinants of breeding synchrony in ungulates
Reassessing the determinants of breeding synchrony in ungulates
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Reassessing the determinants of breeding synchrony in ungulates

English, Annie K ; Chauvenet, Aliénor L M ; Safi, Kamran ; Pettorelli, Nathalie Sueur, Cédric

PloS one, 2012-07, Vol.7 (7), p.e41444 [Periódico revisado por pares]

United States: Public Library of Science

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3
Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease
Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease
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Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease

Yu, Eric ; Rudakou, Uladzislau ; Krohn, Lynne ; Mufti, Kheireddin ; Ruskey, Jennifer A. ; Asayesh, Farnaz ; Estiar, Mehrdad A. ; Spiegelman, Dan ; Surface, Matthew ; Fahn, Stanley ; Waters, Cheryl H. ; Greenbaum, Lior ; Espay, Alberto J. ; Dauvilliers, Yves ; Dupré, Nicolas ; Rouleau, Guy A. ; Hassin‐Baer, Sharon ; Fon, Edward A. ; Alcalay, Roy N. ; Gan‐Or, Ziv

Movement disorders, 2021-01, Vol.36 (1), p.178-187 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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4
Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer
Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer
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Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer

Quigley, David A. ; Dang, Ha X. ; Zhao, Shuang G. ; Lloyd, Paul ; Aggarwal, Rahul ; Alumkal, Joshi J. ; Foye, Adam ; Kothari, Vishal ; Perry, Marc D. ; Bailey, Adina M. ; Playdle, Denise ; Barnard, Travis J. ; Zhang, Li ; Zhang, Jin ; Youngren, Jack F. ; Cieslik, Marcin P. ; Parolia, Abhijit ; Beer, Tomasz M. ; Thomas, George ; Chi, Kim N. ; Gleave, Martin ; Lack, Nathan A. ; Zoubeidi, Amina ; Reiter, Robert E. ; Rettig, Matthew B. ; Witte, Owen ; Ryan, Charles J. ; Fong, Lawrence ; Kim, Won ; Friedlander, Terence ; Chou, Jonathan ; Li, Haolong ; Das, Rajdeep ; Li, Hui ; Moussavi-Baygi, Ruhollah ; Goodarzi, Hani ; Gilbert, Luke A. ; Lara, Primo N. ; Evans, Christopher P. ; Goldstein, Theodore C. ; Stuart, Joshua M. ; Tomlins, Scott A. ; Spratt, Daniel E. ; Cheetham, R. Keira ; Cheng, Donavan T. ; Farh, Kyle ; Gehring, Julian S. ; Hakenberg, Jörg ; Liao, Arnold ; Febbo, Philip G. ; Shon, John ; Sickler, Brad ; Batzoglou, Serafim ; Knudsen, Karen E. ; He, Housheng H. ; Huang, Jiaoti ; Wyatt, Alexander W. ; Dehm, Scott M. ; Ashworth, Alan ; Chinnaiyan, Arul M. ; Maher, Christopher A. ; Small, Eric J. ; Feng, Felix Y.

Cell, 2018-07, Vol.174 (3), p.758-769.e9 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Improved reference genome of Aedes aegypti informs arbovirus vector control
Improved reference genome of Aedes aegypti informs arbovirus vector control
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Improved reference genome of Aedes aegypti informs arbovirus vector control

Matthews, Benjamin J ; Dudchenko, Olga ; Kingan, Sarah B ; Koren, Sergey ; Antoshechkin, Igor ; Crawford, Jacob E ; Glassford, William J ; Herre, Margaret ; Redmond, Seth N ; Rose, Noah H ; Weedall, Gareth D ; Wu, Yang ; Batra, Sanjit S ; Brito-Sierra, Carlos A ; Buckingham, Steven D ; Campbell, Corey L ; Chan, Saki ; Cox, Eric ; Evans, Benjamin R ; Fansiri, Thanyalak ; Filipović, Igor ; Fontaine, Albin ; Gloria-Soria, Andrea ; Hall, Richard ; Joardar, Vinita S ; Jones, Andrew K ; Kay, Raissa G G ; Kodali, Vamsi K ; Lee, Joyce ; Lycett, Gareth J ; Mitchell, Sara N ; Muehling, Jill ; Murphy, Michael R ; Omer, Arina D ; Partridge, Frederick A ; Peluso, Paul ; Aiden, Aviva Presser ; Ramasamy, Vidya ; Rašić, Gordana ; Roy, Sourav ; Saavedra-Rodriguez, Karla ; Sharan, Shruti ; Sharma, Atashi ; Smith, Melissa Laird ; Turner, Joe ; Weakley, Allison M ; Zhao, Zhilei ; Akbari, Omar S ; Black, 4th, William C ; Cao, Han ; Darby, Alistair C ; Hill, Catherine A ; Johnston, J Spencer ; Murphy, Terence D ; Raikhel, Alexander S ; Sattelle, David B ; Sharakhov, Igor V ; White, Bradley J ; Zhao, Li ; Aiden, Erez Lieberman ; Mann, Richard S ; Lambrechts, Louis ; Powell, Jeffrey R ; Sharakhova, Maria V ; Tu, Zhijian ; Robertson, Hugh M ; McBride, Carolyn S ; Hastie, Alex R ; Korlach, Jonas ; Neafsey, Daniel E ; Phillippy, Adam M ; Vosshall, Leslie B

Nature (London), 2018-11, Vol.563 (7732), p.501-507 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Lionel, Anath C ; Costain, Gregory ; Monfared, Nasim ; Walker, Susan ; Reuter, Miriam S ; Hosseini, S Mohsen ; Thiruvahindrapuram, Bhooma ; Merico, Daniele ; Jobling, Rebekah ; Nalpathamkalam, Thomas ; Pellecchia, Giovanna ; Sung, Wilson W L ; Wang, Zhuozhi ; Bikangaga, Peter ; Boelman, Cyrus ; Carter, Melissa T ; Cordeiro, Dawn ; Cytrynbaum, Cheryl ; Dell, Sharon D ; Dhir, Priya ; Dowling, James J ; Heon, Elise ; Hewson, Stacy ; Hiraki, Linda ; Inbar-Feigenberg, Michal ; Klatt, Regan ; Kronick, Jonathan ; Laxer, Ronald M ; Licht, Christoph ; MacDonald, Heather ; Mercimek-Andrews, Saadet ; Mendoza-Londono, Roberto ; Piscione, Tino ; Schneider, Rayfel ; Schulze, Andreas ; Silverman, Earl ; Siriwardena, Komudi ; Snead, O Carter ; Sondheimer, Neal ; Sutherland, Joanne ; Vincent, Ajoy ; Wasserman, Jonathan D ; Weksberg, Rosanna ; Shuman, Cheryl ; Carew, Chris ; Szego, Michael J ; Hayeems, Robin Z ; Basran, Raveen ; Stavropoulos, Dimitri J ; Ray, Peter N ; Bowdin, Sarah ; Meyn, M Stephen ; Cohn, Ronald D ; Scherer, Stephen W ; Marshall, Christian R

Genetics in medicine, 2018-04, Vol.20 (4), p.435-443 [Periódico revisado por pares]

United States: Elsevier Limited

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7
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Marshall, Christian R ; Wu, Wenting ; Antaki, Danny ; Pinto, Dalila ; Wang, Zhouzhi ; Maile, Michelle S ; Agartz, Ingrid ; Albus, Margot ; Amin, Farooq ; Atkins, Joshua ; Bacanu, Silviu A ; Bergen, Sarah E ; Cairns, Murray J ; Cantor, Rita M ; Carrera, Noa ; Catts, Stanley V ; Chambert, Kimberley D ; Cheng, Wei ; Cormican, Paul ; Craddock, Nick ; Crespo-Facorro, Benedicto ; Crowley, James J ; Davidson, Michael ; DeLisi, Lynn E ; Dikeos, Dimitris ; Donohoe, Gary ; Drapeau, Elodie ; Dudbridge, Frank ; Escott-Price, Valentina ; Freimer, Nelson B ; Friedman, Joseph I ; Georgieva, Lyudmila ; Gershon, Elliot S ; Goldstein, Jacqueline I ; Gratten, Jacob ; de Haan, Lieuwe ; Hansen, Mark ; Huang, Hailiang ; Ikeda, Masashi ; Joa, Inge ; Kalaydjieva, Luba ; Kavanagh, David ; Konte, Bettina ; Lee, S Hong ; Lerer, Bernard ; Magnusson, Patrik K E ; Maher, Brion S ; Mattheisen, Manuel ; McIntosh, Andrew M ; Meier, Sandra ; Milanova, Vihra ; Morris, Derek W ; Müller-Myhsok, Bertram ; Nenadic, Igor ; Nestadt, Gerald ; Nordin, Annelie ; O'Dushlaine, Colm ; Olincy, Ann ; Olsen, Line ; Pantelis, Christos ; Papadimitriou, George N ; Parkhomenko, Elena ; Pocklington, Andrew J ; Purcell, Shaun M ; Reichenberg, Abraham ; Reimers, Mark A ; Ruderfer, Douglas M ; Schulze, Thomas G ; Schwab, Sibylle G ; Scolnick, Edward M ; Scott, Rodney J ; Silverman, Jeremy M ; Söderman, Erik ; Strohmaier, Jana ; Suvisaari, Jaana ; Visscher, Peter M ; Webb, Bradley T ; Williams, Nigel M ; Williams, Stephanie ; Wormley, Brandon K ; Zai, Clement C ; Andreassen, Ole A ; Bramon, Elvira ; Daly, Mark J ; Darvasi, Ariel ; Esko, Tõnu ; Gill, Michael ; Jablensky, Assen V ; Jönsson, Erik G ; Kendler, Kenneth S ; McCarroll, Steven A ; Moran, Jennifer L ; Nöthen, Markus M ; Owen, Michael J ; Pato, Carlos N ; St Clair, David ; Walters, James T R ; O'Donovan, Michael C ; Scherer, Stephen W ; Neale, Benjamin M

Nature genetics, 2017-01, Vol.49 (1), p.27-35 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
HER2 overexpression and amplification as a potential therapeutic target in colorectal cancer: analysis of 3256 patients enrolled in the QUASAR, FOCUS and PICCOLO colorectal cancer trials
HER2 overexpression and amplification as a potential therapeutic target in colorectal cancer: analysis of 3256 patients enrolled in the QUASAR, FOCUS and PICCOLO colorectal cancer trials
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HER2 overexpression and amplification as a potential therapeutic target in colorectal cancer: analysis of 3256 patients enrolled in the QUASAR, FOCUS and PICCOLO colorectal cancer trials

Richman, Susan D ; Southward, Katie ; Chambers, Philip ; Cross, Debra ; Barrett, Jennifer ; Hemmings, Gemma ; Taylor, Morag ; Wood, Henry ; Hutchins, Gordon ; Foster, Joseph M ; Oumie, Assa ; Spink, Karen G ; Brown, Sarah R ; Jones, Marc ; Kerr, David ; Handley, Kelly ; Gray, Richard ; Seymour, Matthew ; Quirke, Philip

The Journal of pathology, 2016-03, Vol.238 (4), p.562-570 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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9
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Lindstrand, Anna ; Eisfeldt, Jesper ; Pettersson, Maria ; Carvalho, Claudia M B ; Kvarnung, Malin ; Grigelioniene, Giedre ; Anderlid, Britt-Marie ; Bjerin, Olof ; Gustavsson, Peter ; Hammarsjö, Anna ; Georgii-Hemming, Patrik ; Iwarsson, Erik ; Johansson-Soller, Maria ; Lagerstedt-Robinson, Kristina ; Lieden, Agne ; Magnusson, Måns ; Martin, Marcel ; Malmgren, Helena ; Nordenskjöld, Magnus ; Norling, Ameli ; Sahlin, Ellika ; Stranneheim, Henrik ; Tham, Emma ; Wincent, Josephine ; Ygberg, Sofia ; Wedell, Anna ; Wirta, Valtteri ; Nordgren, Ann ; Lundin, Johanna ; Nilsson, Daniel

Genome medicine, 2019-11, Vol.11 (1), p.68-68, Article 68 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Concerted copy number variation balances ribosomal DNA dosage in human and mouse genomes
Concerted copy number variation balances ribosomal DNA dosage in human and mouse genomes
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Concerted copy number variation balances ribosomal DNA dosage in human and mouse genomes

Gibbons, John G. ; Branco, Alan T. ; Godinho, Susana A. ; Yu, Shoukai ; Lemos, Bernardo

Proceedings of the National Academy of Sciences - PNAS, 2015-02, Vol.112 (8), p.2485-2490 [Periódico revisado por pares]

United States: National Academy of Sciences

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