Results 21 to 30 of about 237,920 (292)

PathogenMIPer: a tool for the design of molecular inversion probes to detect multiple pathogens [PDF]

BMC Bioinformatics, 2006
Background Here we describe PathogenMIPer, a software program for designing molecular inversion probe (MIP) oligonucleotides for use in pathogen identification and detection.
Akhras Michael, Karhanek Miloslav, Thiyagarajan Sreedevi, Davis Ronald W, Pourmand Nader   +4 more
doaj   +2 more sources

Performance of Molecular Inversion Probes (MIP) in Allele Copy Number Determination [PDF]

Genome Biology, 2008
We have developed a new protocol for using molecular inversion probes to accurately and specifically measure allele copy number. The new protocol provides for significant improvements, including the reduction of input DNA (from 2 μg) by more than 25-fold
Yuker Wang, Martin Moorhead, George Karlin‐Neumann, Nicolas J. Wang, James Ireland, Steven Lin, Chunnuan Chen, Laura M. Heiser, Koei Chin, Laura J. Esserman, Joe W. Gray, Paul T. Spellman, Malek Faham   +12 more
semanticscholar   +4 more sources

Molecular inversion probe-based SPR biosensing for specific, label-free and real-time detection of regional DNA methylation. [PDF]

Chemical Communications, 2014
DNA methylation has the potential to be a clinically important biomarker in cancer. This communication reports a real-time and label-free biosensing strategy for DNA methylation detection in the cancer cell line.
L. Carrascosa, A. Sina, R. Palanisamy, B. Sepúlveda, M. A. Otte, S. Rauf, Muhamad J A Shiddiky, M. Trau   +7 more
semanticscholar   +6 more sources

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy [PDF]

Molecular Cytogenetics
Background Duchenne muscular dystrophy (DMD) is a severe disorder that primarily affects males due to its X-linked recessive inheritance. It is caused by pathogenic variants of the DMD gene, most commonly exonic deletions, duplications, or point ...
Tuuni Turtinen, Pirjo Isohanni, Anna-Kaisa Anttonen, Leena Huhti, Katri Pylkäs, Marketta Tikkanen, Anna H. Hakonen, Sonja Strang-Karlsson, Tuomo Mantere   +8 more
doaj   +2 more sources

High-throughput genotyping of Plasmodium vivax in the Peruvian Amazon via molecular inversion probes

Nature Communications
Plasmodium vivax transmission occurs throughout the tropics and is an emerging threat in areas of Plasmodium falciparum decline, causing relapse infections that complicate treatment and control. Targeted sequencing for P.
Zachary R. Popkin-Hall, Karamoko Niaré, Rebecca Crudale, Alfred Simkin, Abebe A. Fola, Juan F. Sanchez, Danielle L. Pannebaker, David J. Giesbrecht, Isaac E. Kim, Özkan Aydemir, Jeffrey A. Bailey, Hugo O. Valdivia, Jonathan J. Juliano   +12 more
doaj   +3 more sources

Ultrafast probing of isotope-induced explicit symmetry breaking in ethylene [PDF]

Communications Chemistry
Symmetry governs nature’s laws, yet many of the natural phenomena occur due to the breakdown of symmetry. Here, we show how isotope-induced inversion symmetry breaking influences ultrafast photoisomerization processes in ethylene.
Alessandro Nicola Nardi, Alexie Boyer, Yaowei Hu, Vincent Loriot, Franck Lépine, Morgane Vacher, Saikat Nandi   +6 more
doaj   +2 more sources

Comprehensive Screening of Gene Copy Number Aberrations in Formalin-Fixed, Paraffin-Embedded Solid Tumors Using Molecular Inversion Probe–Based Single-Nucleotide Polymorphism Array [PDF]

Journal of Molecular Diagnostics, 2016
Rajesh R. Singh, Meenakshi Mehrotra, Hui Chen, Alaa A. Almohammedsalim, Ayesagul Sahin, Alex Bosamra, Keyur P. Patel, Mark J. Routbort, Xinyan Lu, Ronald Abraham, Bal M. Mishra, Shumaila Virani, L. Jeffrey Medeiros, Rajyalakshmi Luthra   +13 more
openalex   +2 more sources

From shadows to clarity: A new paradigm for comprehensive variant detection in undiagnosed dystrophinopathy using combined long-read and RNA sequencing [PDF]

Computational and Structural Biotechnology Journal
Approximately 2–5 % of dystrophinopathy cases remain undiagnosed at the molecular level following standard multiplex ligation-dependent probe amplification (MLPA) and exome sequencing (ES), precluding these patients from variant-specific genetic ...
Lei Zhao, Shirang Pan, Chaoping Hu, Yiyun Shi, Xihua Li   +4 more
doaj   +2 more sources

Recurrent genetic alterations in epigenetically defined pineoblastoma subtypes [PDF]

Acta Neuropathologica Communications
Previous studies have revealed four distinct epigenetic consensus pineoblastoma (PB) subtypes. The aim of this study was to confirm and further extend their respective genetic underpinnings.
Tobias Goschzik, Mathias Yuan, Elke Pfaff, Manuel E. B. Müller, Martin Mynarek, Evelyn Dörner, David T. W. Jones, Stefan M. Pfister, Stefan Rutkowski, Torsten Pietsch   +9 more
doaj   +2 more sources

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation

Biomolecules, 2023
Background: The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the external genitalia, and, in severe cases, the gastrointestinal tract as well ...
Ricarda Köllges, Jil Stegmann, Sophia Schneider, Lea Waffenschmidt, Julia Fazaal, Katinka Breuer, Alina C. Hilger, Gabriel C. Dworschak, Enrico Mingardo, Wolfgang Rösch, Aybike Hofmann, Claudia Neissner, Anne-Karolin Ebert, Raimund Stein, Nina Younsi, Karin Hirsch-Koch, Eberhard Schmiedeke, Nadine Zwink, Ekkehart Jenetzky, Holger Thiele, Kerstin U. Ludwig, Heiko Reutter   +21 more
doaj   +1 more source