Results 1 to 10 of about 347,499 (287)

A molecular inversion probe assay for detecting alternative splicing [PDF]

BMC Genomics, 2010
Absract Background A sensitive, high-throughput method for monitoring pre-mRNA splicing on a genomic scale is needed to understand the spectrum of alternatively spliced mRNA in human cells.
Palm Curtis, Wang Wenyi, Lin Shengrong, Davis Ronald W, Juneau Kara   +4 more
doaj   +9 more sources

Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing. [PDF]

PLoS ONE, 2020
Resolving the genetic architecture of painful neuropathy will lead to better disease management strategies. We aimed to develop a reliable method to re-sequence multiple genes in a large cohort of painful neuropathy patients at low cost.
Rowida Almomani, Margherita Marchi, Maurice Sopacua, Patrick Lindsey, Erika Salvi, Bart de Koning, Silvia Santoro, Stefania Magri, Hubert J M Smeets, Filippo Martinelli Boneschi, Rayaz R Malik, Dan Ziegler, Janneke G J Hoeijmakers, Gidon Bönhof, Sulayman Dib-Hajj, Stephen G Waxman, Ingemar S J Merkies, Giuseppe Lauria, Catharina G Faber, Monique M Gerrits, on behalf on the PROPANE Study Group   +20 more
doaj   +8 more sources

Molecular inversion probe: a new tool for highly specific detection of plant pathogens. [PDF]

PLoS ONE, 2014
Highly specific detection methods, capable of reliably identifying plant pathogens are crucial in plant disease management strategies to reduce losses in agriculture by preventing the spread of diseases. We describe a novel molecular inversion probe (MIP)
Han Yih Lau, Ramkumar Palanisamy, Matt Trau, Jose R Botella   +3 more
doaj   +9 more sources

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

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   +10 more sources

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India [PDF]

Human Genomics
Background Current clinical diagnosis pathway for lysosomal storage disorders (LSDs) involves sequential biochemical enzymatic tests followed by DNA sequencing, which is iterative, has low diagnostic yield and is costly due to overlapping clinical ...
Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, Jayesh Sheth   +41 more
doaj   +5 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   +7 more sources

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   +7 more sources

Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing. [PDF]

PLoS ONE, 2021
[This corrects the article DOI: 10.1371/journal.pone.0238467.].
Rowida Almomani, Margherita Marchi, Maurice Sopacua, Patrick Lindsey, Erika Salvi, Bart de Koning, Silvia Santoro, Stefania Magri, Hubert J M Smeets, Filippo Martinelli Boneschi, Rayaz A Malik, Dan Ziegler, Janneke G J Hoeijmakers, Gidon Bönhof, Sulayman Dib-Hajj, Stephen G Waxman, Ingemar S J Merkies, Giuseppe Lauria, Catharina G Faber, Monique M Gerrits, on behalf on the PROPANE Study Group   +20 more
doaj   +3 more sources

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

NAR Genom Bioinform, 2022
Deep 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 ...
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   +5 more sources

Detection of 16S rRNA and KPC Genes from Complex Matrix Utilizing a Molecular Inversion Probe Assay for Next-Generation Sequencing [PDF]

Scientific Reports, 2018
Targeted sequencing promises to bring next-generation sequencing (NGS) into routine clinical use for infectious disease diagnostics. In this context, upfront processing techniques, including pathogen signature enrichment, must amplify multiple targets of
Christopher P. Stefan, Adrienne T. Hall, Timothy D. Minogue   +2 more
doaj   +3 more sources