Results 21 to 30 of about 103,477 (279)

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

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   +3 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

Investigating Single-Molecule Molecular Inversion Probes for Medium-Scale Targeted DNA Methylation Analysis

Epigenomes
Background: Epigenetic biomarkers, particularly CpG methylation, are increasingly employed in clinical and forensic settings. However, we still lack a cost-effective, sensitive, medium-scale method for the analysis of hundreds to thousands of user ...
Roy B. Simons, Hieab H. H. Adams, Manfred Kayser, Athina Vidaki   +3 more
doaj   +4 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   +4 more sources

An improved molecular inversion probe based targeted sequencing approach for low variant allele frequency. [PDF]

NAR Genom Bioinform, 2022
AbstractDeep targeted sequencing technologies are still not widely used in clinical practice due to the complexity of the methods and their cost. The Molecular Inversion Probes (MIP) technology is cost effective and scalable in the number of targets, however, suffers from low overall performance especially in GC rich regions.
Biezuner T, Brilon Y, Arye AB, Oron B, Kadam A, Danin A, Furer N, Minden MD, Hwan Kim DD, Shapira S, Arber N, Dick J, Thavendiranathan P, Moskovitz Y, Kaushansky N, Chapal-Ilani N, Shlush LI.   +16 more
europepmc   +4 more sources

Molecular inversion probe assay for allelic quantitation. [PDF]

Methods Mol Biol, 2009
Molecular inversion probe (MIP) technology has been demonstrated to be a robust platform for large-scale dual genotyping and copy number analysis. Applications in human genomic and genetic studies include the possibility of running dual germline genotyping and combined copy number variation ascertainment.
Ji H, Welch K.
europepmc   +4 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

Using population selection and sequencing to characterize natural variation of starvation resistance in Caenorhabditis elegans

eLife, 2022
Starvation resistance is important to disease and fitness, but the genetic basis of its natural variation is unknown. Uncovering the genetic basis of complex, quantitative traits such as starvation resistance is technically challenging.
Amy K Webster, Rojin Chitrakar, Maya Powell, Jingxian Chen, Kinsey Fisher, Robyn E Tanny, Lewis Stevens, Kathryn Evans, Angela Wei, Igor Antoshechkin, Erik C Andersen, L Ryan Baugh   +11 more
doaj   +1 more source

Molecular inversion probe analysis detects novel copy number alterations in Ewing sarcoma. [PDF]

Cancer Genet, 2012
Ewing sarcoma (ES) is the second most common bone tumor in children and young adults, with dismal outcomes for metastatic and relapsed disease. To better understand the molecular pathogenesis of ES and to identify new prognostic markers, we used molecular inversion probes (MIPs) to evaluate copy number alterations (CNAs) and loss of heterozygosity (LOH)
Jahromi MS, Putnam AR, Druzgal C, Wright J, Spraker-Perlman H, Kinsey M, Zhou H, Boucher KM, Randall RL, Jones KB, Lucas D, Rosenberg A, Thomas D, Lessnick SL, Schiffman JD.   +14 more
europepmc   +4 more sources