Results 61 to 70 of about 155,803 (258)

HemoMIPs-Automated analysis and result reporting pipeline for targeted sequencing data.

PLoS Computational Biology, 2020
Targeted sequencing of genomic regions is a cost- and time-efficient approach for screening patient cohorts. We present a fast and efficient workflow to analyze highly imbalanced, targeted next-generation sequencing data generated using molecular ...
Philip Kleinert, Beth Martin, Martin Kircher   +2 more
doaj   +1 more source

Molecular inversion probes reveal patterns of 9p21 deletion and copy number aberrations in childhood leukemia [PDF]

Cancer Genetics and Cytogenetics, 2009
Childhood leukemia, which accounts for >30% of newly diagnosed childhood malignancies, is one of the leading causes of death for children with cancer. Genome-wide studies using microarray chips to identify copy number changes in human cancer are becoming more common.
Joshua D. Schiffman, Yuker Wang, Lisa McPherson, Katrina Welch, Nancy Zhang, Ronald W. Davis, Norman J. Lacayo, Gary V. Dahl, Malek Faham, James M. Ford, Hanlee P. Ji   +10 more
openalex   +4 more sources

Highly multiplexed targeted sequencing strategy for infectious disease surveillance

BMC Biotechnology, 2023
Background Global efforts to characterize diseases of poverty are hampered by lack of affordable and comprehensive detection platforms, resulting in suboptimal allocation of health care resources and inefficient disease control.
Iván Hernández-Neuta, Anastasia Magoulopoulou, Flor Pineiro, Jan Gorm Lisby, Mats Gulberg, Mats Nilsson   +5 more
doaj   +1 more source

Novel molecular aberrations and pathologic findings in a tubulocystic variant of renal cell carcinoma

Indian Journal of Pathology and Microbiology, 2013
Tubulocystic renal cell carcinoma (TRCC) is an indolent type of renal cell carcinoma with a good prognosis based on the limited number of published cases. Herein, we describe the unusual clinical, pathologic and molecular findings in a case of TRCC.
Nikhil A Sangle, Rong Mao, Shashirekha Shetty, Joshua D Schiffman, Christopher Dechet, Lester Layfield, Neeraj Agarwal, Ting Liu   +7 more
doaj   +1 more source

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform. [PDF]

PLoS ONE, 2011
Despite the ever-increasing throughput and steadily decreasing cost of next generation sequencing (NGS), whole genome sequencing of humans is still not a viable option for the majority of genetics laboratories.
Dale J Hedges, Toumy Guettouche, Shan Yang, Guney Bademci, Ashley Diaz, Ashley Andersen, William F Hulme, Sara Linker, Arpit Mehta, Yvonne J K Edwards, Gary W Beecham, Eden R Martin, Margaret A Pericak-Vance, Stephan Zuchner, Jeffery M Vance, John R Gilbert   +15 more
doaj   +1 more source

Brucella NyxA and NyxB dimerization enhances effector function during infection

FEBS Letters, EarlyView.
Brucella abortus thrives inside cells thanks to the translocation of effector proteins that fine‐tune cellular functions. NyxA and NyxB are two effectors that destabilize the nucleolar localization of their host target, SENP3. We show that the Nyx proteins directly interact with each other and that their dimerization is essential for their function ...
Lison Cancade‐Veyre, Arthur Louche, Francine C. A. Gérard, Laurent Terradot, Suzana P. Salcedo   +4 more
wiley   +1 more source

Recurrent loss of heterozygosity in 1p36 associated with TNFRSF14 mutations in IRF4 translocation negative pediatric follicular lymphomas

Haematologica, 2013
Pediatric follicular lymphoma is a rare disease that differs genetically and clinically from its adult counterpart. With the exception of pediatric follicular lymphoma with IRF4-translocation, the genetic events associated with these lymphomas have not ...
Idoia Martin-Guerrero, Itziar Salaverria, Birgit Burkhardt, Monika Szczepanowski, Michael Baudis, Susanne Bens, Laurence de Leval, Africa Garcia-Orad, Heike Horn, Jasmin Lisfeld, Shoji Pellissery, Wolfram Klapper, Ilske Oschlies, Reiner Siebert   +13 more
doaj   +1 more source

The carboxylate “gripper” of the substrate is critical for C‐4 stereo‐inversion by UDP‐glucuronic acid 4‐epimerase

FEBS Letters, EarlyView.
UDP‐glucuronic acid 4‐epimerase (UGAepi) catalyzes NAD+‐dependent interconversion of UDP‐glucuronic acid (UDP‐GlcA) and UDP‐galacturonic acid (UDP‐GalA) via C4‐oxidation, 4‐keto‐intermediate rotation, and C4‐reduction. Here, Borg et al. examined the role of the substrate's carboxylate group in the enzymic mechanism by analyzing NADH‐dependent reduction
Annika J. E. Borg, Laura De Cnop, Bernd Nidetzky   +2 more
wiley   +1 more source

Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia

Frontiers in Neurology, 2019
Background: This study's aim was to investigate a large cohort of dystonia patients for pathogenic and rare variants in the ATM gene, making use of a new, cost-efficient enrichment technology for NGS-based screening. Methods: Single molecule Molecular Inversion Probes (smMIPs) were used for targeted enrichment and sequencing of all protein coding exons
Michaela Pogoda, Franz-Joachim Hilke, Franz-Joachim Hilke, Ebba Lohmann, Ebba Lohmann, Ebba Lohmann, Marc Sturm, Florian Lenz, Jakob Matthes, Francesc Muyas, Francesc Muyas, Francesc Muyas, Stephan Ossowski, Stephan Ossowski, Stephan Ossowski, Alexander Hoischen, Alexander Hoischen, Ulrike Faust, Ilnaz Sepahi, Nicolas Casadei, Nicolas Casadei, Sven Poths, Olaf Riess, Olaf Riess, Christopher Schroeder, Kathrin Grundmann   +25 more
openaire   +7 more sources

Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Haematologica, 2020
Genomic studies of pediatric acute lymphoblastic leukemia (ALL) have shown remarkable heterogeneity in initial diagnosis, with multiple (sub)clones harboring lesions in relapse-associated genes.
Željko Antić, Jiangyan Yu, Simon V. van Reijmersdal, Anke van Dijk, Linde Dekker, Wouter H. Segerink, Edwin Sonneveld, Marta Fiocco, Rob Pieters, Peter M. Hoogerbrugge, Frank N. van Leeuwen, Ad Geurts van Kessel, Esme Waanders, Roland P. Kuiper   +13 more
doaj   +1 more source