Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and Genome Analyzer systems

por Minoche, André E, Dohm, Juliane C, Himmelbauer, Heinz
Publicado 2011

Highly diverse chromoviruses of Beta vulgaris are classified by chromodomains and chromosomal integration

por Weber, Beatrice, Heitkam, Tony, Holtgräwe, Daniela, Weisshaar, Bernd, Minoche, André E, Dohm, Juliane C, Himmelbauer, Heinz, Schmidt, Thomas
Publicado 2013

Exploiting single-molecule transcript sequencing for eukaryotic gene prediction

por Minoche, André E., Dohm, Juliane C., Schneider, Jessica, Holtgräwe, Daniela, Viehöver, Prisca, Montfort, Magda, Rosleff Sörensen, Thomas, Weisshaar, Bernd, Himmelbauer, Heinz
Publicado 2015

Genomes of the wild beets Beta patula and Beta vulgaris ssp. maritima

por Rodríguez del Río, Álvaro, Minoche, André E., Zwickl, Nikolaus F., Friedrich, Anja, Liedtke, Susan, Schmidt, Thomas, Himmelbauer, Heinz, Dohm, Juliane C.
Publicado 2019

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

por Rius, Rocio, Compton, Alison G., Baker, Naomi L., Welch, AnneMarie E., Coman, David, Kava, Maina P., Minoche, Andre E., Cowley, Mark J., Thorburn, David R., Christodoulou, John
Publicado 2021

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

por Kumar, Kishore R, Wali, G.M., Kamate, Mahesh, Wali, Gautam, Minoche, André E, Puttick, Clare, Pinese, Mark, Gayevskiy, Velimir, Dinger, Marcel E, Roscioli, Tony, Sue, Carolyn M., Cowley, Mark J
Publicado 2016

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

por Minoche, Andre E., Lundie, Ben, Peters, Greg B., Ohnesorg, Thomas, Pinese, Mark, Thomas, David M., Zankl, Andreas, Roscioli, Tony, Schonrock, Nicole, Kummerfeld, Sarah, Burnett, Leslie, Dinger, Marcel E., Cowley, Mark J.
Publicado 2021

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

por Kumar, Kishore R., Wali, Gautam, Davis, Ryan L., Mallawaarachchi, Amali C., Palmer, Elizabeth E., Gayevskiy, Velimir, Minoche, Andre E., Veivers, David, Dinger, Marcel E., Mackay-Sim, Alan, Cowley, Mark J., Sue, Carolyn M.
Publicado 2018

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies

por Nash, Benjamin M., Ma, Alan, Ho, Gladys, Farnsworth, Elizabeth, Minoche, Andre E., Cowley, Mark J., Barnett, Christopher, Smith, Janine M., Loi, To Ha, Wong, Karen, St Heaps, Luke, Wright, Dale, Dinger, Marcel E., Bennetts, Bruce, Grigg, John R., Jamieson, Robyn V.
Publicado 2022

Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

por Davis, Ryan L., Kumar, Kishore R., Puttick, Clare, Liang, Christina, Ahmad, Kate E., Edema-Hildebrand, Fabienne, Park, Jin-Sung, Minoche, Andre E., Gayevskiy, Velimir, Mallawaarachchi, Amali C., Christodoulou, John, Schofield, Deborah, Dinger, Marcel E., Cowley, Mark J., Sue, Carolyn M.
Publicado 2022

Whole-Genome Sequencing as a First-Line Genetic Test in Familial Dilated Cardiomyopathy

por Minoche, Andre E., Horvat, Claire, Johnson, Renee, Gayevskiy, Velimir, Morton, Sarah U., Drew, Alexander P., Woo, Kerhan, Statham, Aaron L., Lundie, Ben, Bagnall, Richard D., Ingles, Jodie, Semsarian, Christopher, Seidman, J.G., Seidman, Christine E., Dinger, Marcel E., Cowley, Mark J., Fatkin, Diane
Publicado 2018

Identification of ALK Gene Alterations in Urothelial Carcinoma

por Bellmunt, Joaquim, Selvarajah, Shamini, Rodig, Scott, Salido, Marta, de Muga, Silvia, Costa, Irmgard, Bellosillo, Beatriz, Werner, Lillian, Mullane, Stephanie, Fay, André P., O'Brien, Robert, Barretina, Jordi, Minoche, André E., Signoretti, Sabina, Montagut, Clara, Himmelbauer, Heinz, Berman, David M., Kantoff, Philip, Choueiri, Toni K., Rosenberg, Jonathan E.
Publicado 2014

Canfam_GSD: De novo chromosome-length genome assembly of the German Shepherd Dog (Canis lupus familiaris) using a combination of long reads, optical mapping, and Hi-C

por Field, Matt A, Rosen, Benjamin D, Dudchenko, Olga, Chan, Eva K F, Minoche, Andre E, Edwards, Richard J, Barton, Kirston, Lyons, Ruth J, Tuipulotu, Daniel Enosi, Hayes, Vanessa M, D. Omer, Arina, Colaric, Zane, Keilwagen, Jens, Skvortsova, Ksenia, Bogdanovic, Ozren, Smith, Martin A, Aiden, Erez Lieberman, Smith, Timothy P L, Zammit, Robert A, Ballard, J William O
Publicado 2020

The Australian dingo is an early offshoot of modern breed dogs

por Field, Matt A., Yadav, Sonu, Dudchenko, Olga, Esvaran, Meera, Rosen, Benjamin D., Skvortsova, Ksenia, Edwards, Richard J., Keilwagen, Jens, Cochran, Blake J., Manandhar, Bikash, Bustamante, Sonia, Rasmussen, Jacob Agerbo, Melvin, Richard G., Chernoff, Barry, Omer, Arina, Colaric, Zane, Chan, Eva K. F., Minoche, Andre E., Smith, Timothy P. L., Gilbert, M. Thomas P., Bogdanovic, Ozren, Zammit, Robert A., Thomas, Torsten, Aiden, Erez L., Ballard, J. William O.
Publicado 2022

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

por Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.
Publicado 2020

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

por Ewans, Lisa J., Minoche, Andre E., Schofield, Deborah, Shrestha, Rupendra, Puttick, Clare, Zhu, Ying, Drew, Alexander, Gayevskiy, Velimir, Elakis, George, Walsh, Corrina, Adès, Lesley C., Colley, Alison, Ellaway, Carolyn, Evans, Carey-Anne, Freckmann, Mary-Louise, Goodwin, Linda, Hackett, Anna, Kamien, Benjamin, Kirk, Edwin P., Lipke, Michelle, Mowat, David, Palmer, Elizabeth, Rajagopalan, Sulekha, Ronan, Anne, Sachdev, Rani, Stevenson, William, Turner, Anne, Wilson, Meredith, Worgan, Lisa, Morel-Kopp, Marie-Christine, Field, Michael, Buckley, Michael F., Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony
Publicado 2022

Architecture and evolution of a minute plant genome

por Ibarra-Laclette, Enrique, Lyons, Eric, Hernández-Guzmán, Gustavo, Pérez-Torres, Claudia Anahí, Carretero-Paulet, Lorenzo, Chang, Tien-Hao, Lan, Tianying, Welch, Andreanna J., Juárez, María Jazmín Abraham, Simpson, June, Fernández-Cortés, Araceli, Arteaga-Vázquez, Mario, Góngora-Castillo, Elsa, Acevedo-Hernández, Gustavo, Schuster, Stephan C., Himmelbauer, Heinz, Minoche, André E., Xu, Sen, Lynch, Michael, Oropeza-Aburto, Araceli, Cervantes-Pérez, Sergio Alan, de Jesús Ortega-Estrada, María, Cervantes-Luevano, Jacob Israel, Michael, Todd P., Mockler, Todd, Bryant, Douglas, Herrera-Estrella, Alfredo, Albert, Victor A., Herrera-Estrella, Luis
Publicado 2013

Genome and transcriptome analysis of the Mesoamerican common bean and the role of gene duplications in establishing tissue and temporal specialization of genes

por Vlasova, Anna, Capella-Gutiérrez, Salvador, Rendón-Anaya, Martha, Hernández-Oñate, Miguel, Minoche, André E., Erb, Ionas, Câmara, Francisco, Prieto-Barja, Pablo, Corvelo, André, Sanseverino, Walter, Westergaard, Gastón, Dohm, Juliane C., Pappas, Georgios J., Saburido-Alvarez, Soledad, Kedra, Darek, Gonzalez, Irene, Cozzuto, Luca, Gómez-Garrido, Jessica, Aguilar-Morón, María A., Andreu, Nuria, Aguilar, O. Mario, Garcia-Mas, Jordi, Zehnsdorf, Maik, Vázquez, Martín P., Delgado-Salinas, Alfonso, Delaye, Luis, Lowy, Ernesto, Mentaberry, Alejandro, Vianello-Brondani, Rosana P., García, José Luís, Alioto, Tyler, Sánchez, Federico, Himmelbauer, Heinz, Santalla, Marta, Notredame, Cedric, Gabaldón, Toni, Herrera-Estrella, Alfredo, Guigó, Roderic
Publicado 2016