Detection of Gene Rearrangements in Targeted Clinical Next-Generation Sequencing

Por Abel, Haley J., Al-Kateb, Hussam, Cottrell, Catherine E., Bredemeyer, Andrew J., Pritchard, Colin C., Grossmann, Allie H., Wallander, Michelle L., Pfeifer, John D., Lockwood, Christina M., Duncavage, Eric J.
Publicado em 2014

Integrative Genomic Analysis Reveals Cancer-Associated Gene Mutations in Chronic Myeloid Leukemia...

Por Wu W, Xu N, Zhou X, Liu L, Tan Y, Luo J, Huang J, Qin J, Wang J, Li Z, Yin C, Zhou L, Liu X
Publicado em 2020-08-01

Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping...

Por Ji, Yuan, Skierka, Jennifer M., Blommel, Joseph H., Moore, Brenda E., VanCuyk, Douglas L., Bruflat, Jamie K., Peterson, Lisa M., Veldhuizen, Tamra L., Fadra, Numrah, Peterson, Sandra E., Lagerstedt, Susan A., Train, Laura J., Baudhuin, Linnea M., Klee, Eric W., Ferber, Matthew J., Bielinski, Suzette J., Caraballo, Pedro J., Weinshilboum, Richard M., Black, John L.
Publicado no J Mol Diagn (2016)

Studying alcohol use disorder using Drosophila melanogaster in the era of ‘Big Data’

Por Gregory L. Engel, Kreager Taber, Elizabeth Vinton, Amanda J. Crocker
Publicado em 2019-04-01

Next-generation sequencing identifies germline MRE11A variants as markers of radiotherapy outcomes in muscle-invasive bladder cancer

Por Teo, M. T. W., Dyrskjøt, L., Nsengimana, J., Buchwald, C., Snowden, H., Morgan, J., Jensen, J. B., Knowles, M. A., Taylor, G., Barrett, J. H., Borre, M., Ørntoft, T. F., Bishop, D. T., Kiltie, A. E.
Publicado em 2014

Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes

Por Margraf, Rebecca L., Durtschi, Jacob, Krock, Bryan, Newcomb, Tara M., Bonkowsky, Joshua L., Voelkerding, Karl V., Bayrak-Toydemir, Pinar, Lutz, Richard E., Swoboda, Kathryn J.
Publicado no Child Neurol Open (2018)

Differential Gene Expression in Red Imported Fire Ant (<i>Solenopsis invicta</i>) (Hymenoptera: Formicidae) Larval and Pupal Stages

Por Margaret L. Allen, Joshua H. Rhoades, Michael E. Sparks, Michael J. Grodowitz
Publicado em 2018-12-01

A genome-wide linkage and association study of musical aptitude identifies loci containing genes related to inner ear development and neurocognitive functions

Por Oikkonen, J., Huang, Y., Onkamo, P., Ukkola-Vuoti, L., Raijas, P., Karma, K., Vieland, V. J., Järvelä, I.
Publicado no Mol Psychiatry (2014)

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

Por Hopp, Katharina, Heyer, Christina M., Hommerding, Cynthia J., Henke, Susan A., Sundsbak, Jamie L., Patel, Shail, Patel, Priyanka, Consugar, Mark B., Czarnecki, Peter G., Gliem, Troy J., Torres, Vicente E., Rossetti, Sandro, Harris, Peter C.
Publicado em 2011

Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome...

Por Hart, Steven N., Maxwell, Kara N., Thomas, Tinu, Ravichandran, Vignesh, Wubberhorst, Bradley, Klein, Robert J., Schrader, Kasmintan, Szabo, Csilla, Weitzel, Jeffrey N., Neuhausen, Susan L., Nathanson, Katherine, Offit, Kenneth, Couch, Fergus J., Vijai, Joseph
Publicado no Brief Bioinform (2016)

Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material

Por Elisabeth M. P. Steeghs, Leonie I. Kroeze, Bastiaan B. J. Tops, Leon C. van Kempen, Arja ter Elst, Annemiek W. M. Kastner-van Raaij, Sandra J. B. Hendriks-Cornelissen, Mandy J. W. Hermsen, Erik A. M. Jansen, Petra M. Nederlof, Ed Schuuring, Marjolijn J. L. Ligtenberg, Astrid Eijkelenboom
Publicado em 2020-04-01

The Clinically Actionable Molecular Profile of Early versus Late-Stage Non-Small Cell Lung Cancer, an Individual Age and Sex Propensity-Matched Pair Analysis

Por Anna L. McGuire, Melissa K. McConechy, Barb L. Melosky, John C. English, James J. Choi, Defen Peng, John Yee, Benjamin L. S. Furman, Rosalia Aguirre Hernandez, Pedro Feijao, David Mulder, Curtis Hughesman, Stephen Yip
Publicado em 2022-04-01

Impact of next-generation sequencing error on analysis of barcoded plasmid libraries of known complexity and sequence

Por Deakin, Claire T., Deakin, Jeffrey J., Ginn, Samantha L., Young, Paul, Humphreys, David, Suter, Catherine M., Alexander, Ian E., Hallwirth, Claus V.
Publicado em 2014

De novo clustering methods outperform reference-based methods for assigning 16S rRNA gene sequences to operational taxonomic units

Por Sarah L. Westcott, Patrick D. Schloss
Publicado em 2015-12-01

C. elegans FOG-3/Tob can either promote or inhibit germline proliferation, depending on gene dosage and genetic context

Por Snow, Joshua J., Lee, Myon-Hee, Verheyden, Jamie, Kroll-Conner, Peggy L., Kimble, Judith
Publicado em 2012

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis

Por McDonald, David A., Shi, Changbin, Shenkar, Robert, Gallione, Carol J., Akers, Amy L., Li, Stephanie, De Castro, Nicholas, Berg, Michel J., Corcoran, David L., Awad, Issam A., Marchuk, Douglas A.
Publicado em 2014

Recent advances in developing therapeutics for cystic fibrosis

Por Strug, Lisa J, Stephenson, Anne L, Panjwani, Naim, Harris, Ann
Publicado no Hum Mol Genet (2018)

Minimally invasive genomic and transcriptomic profiling of visceral cancers by next-generation sequencing of circulating exosomes

Por San Lucas, F. A., Allenson, K., Bernard, V., Castillo, J., Kim, D. U., Ellis, K., Ehli, E. A., Davies, G. E., Petersen, J. L., Li, D., Wolff, R., Katz, M., Varadhachary, G., Wistuba, I., Maitra, A., Alvarez, H.
Publicado no Ann Oncol (2016)

Advances in the genomics of common eye diseases

Por Cooke Bailey, Jessica N., Sobrin, Lucia, Pericak-Vance, Margaret A., Haines, Jonathan L., Hammond, Christopher J., Wiggs, Janey L.
Publicado em 2013

Early circulating tumour DNA kinetics measured by ultra-deep next-generation sequencing during...

Por G. M. Walls, L. McConnell, J. McAleese, P. Murray, T. B. Lynch, K. Savage, G. G. Hanna, D. Gonzalez de Castro
Publicado em 2020-05-01