Results 1 to 10 of about 427,327 (296)

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   +5 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   +5 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

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   +5 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   +9 more sources

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

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

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

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

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients. [PDF]

Oncotarget, 2017
The currently known Mendelian colorectal cancer (CRC) predisposition syndromes account for ∼5–10% of all CRC cases, and are caused by inherited germline mutations in single CRC predisposing genes.
Zhang J, Wang X, de Voer RM, Hehir-Kwa JY, Kamping EJ, Weren RDA, Nelen M, Hoischen A, Ligtenberg MJL, Hoogerbrugge N, Yang X, Yang Z, Fan X, Wang L, Liu H, Wang J, Kuiper RP, van Kessel AG.   +17 more
europepmc   +4 more sources

Genome-wide copy number aberrations and HER2 and FGFR1 alterations in primary breast cancer by molecular inversion probe microarray. [PDF]

Oncotarget, 2017
Breast cancer remains the second leading cause of cancer-related death in women despite stratification based on standard hormonal receptor (HR) and HER2 testing. Additional prognostic markers are needed to improve breast cancer treatment. Chromothripsis,
Chen H, Singh RR, Lu X, Huo L, Yao H, Aldape K, Abraham R, Virani S, Mehrotra M, Mishra BM, Bousamra A, Albarracin C, Wu Y, Roy-Chowdhuri S, Kanagal-Shamanna R, Routbort MJ, Medeiros LJ, Patel KP, Broaddus R, Sahin A, Luthra R.   +20 more
europepmc   +4 more sources