Results 1 to 10 of about 237,920 (292)

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

Performance of molecular inversion probe DR23K and Paragon MAD4HatTeR Amplicon sequencing panels for detection of Plasmodium falciparum mutations associated with antimalarial drug resistance [PDF]

Malaria Journal
Background Molecular surveillance of drug-resistant Plasmodium falciparum is crucial for malaria control in endemic regions. Two targeted-resequencing tools, the Molecular Inversion Probe (MIP) drug resistance panel DR23K and the Multiplexed Amplicons ...
Thomas Katairo, Victor Asua, Bienvenu Nsengimaana, Stephen Tukwasibwe, Francis D. Semakuba, Innocent Wiringilimaana, Brian A. Kagurusi, Caroline Mwubaha, Jackie Nakasaanya, Shreeya Garg, Shahiid Kiyaga, Monica Mbabazi, Kisakye D. Kabbale, Alisen Ayitewala, Samuel L. Nsobya, Moses R. Kamya, Isaac Ssewanyana, Jeffrey A. Bailey, Andrés Aranda-Díaz, Philip J. Rosenthal, Bryan Greenhouse, Jessica Briggs, Melissa D. Conrad   +22 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

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases. [PDF]

Int J Mol Sci, 2021
A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to incomplete USH2A screening in the early days of genetic testing.
Reurink J, Dockery A, Oziębło D, Farrar GJ, Ołdak M, Ten Brink JB, Bergen AA, Rinne T, Yntema HG, Pennings RJE, van den Born LI, Aben M, Oostrik J, Venselaar H, Plomp AS, Khan MI, van Wijk E, Cremers FPM, Roosing S, Kremer H.   +19 more
europepmc   +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   +4 more sources

Highly multiplexed molecular inversion probe panel in Plasmodium falciparum targeting common SNPs approximates whole-genome sequencing assessments for selection and relatedness [PDF]

Frontiers in Genetics
IntroductionThe use of next-generation sequencing technologies (NGS) to study parasite populations and their response and evolution to interventions is important to support malaria control and elimination efforts.
Karamoko Niaré, Karamoko Niaré, Rebecca Crudale, Abebe A. Fola, Abebe A. Fola, Neeva Wernsman Young, Victor Asua, Victor Asua, Melissa D. Conrad, Pierre Gashema, Anita Ghansah, Stan Hangi, Deus S. Ishengoma, Deus S. Ishengoma, Jean-Baptiste Mazarati, Ayalew Jejaw Zeleke, Philip J. Rosenthal, Abdoulaye A. Djimdé, Abdoulaye A. Djimdé, Jonathan J. Juliano, Jonathan J. Juliano, Jonathan J. Juliano, Jeffrey A. Bailey, Jeffrey A. Bailey   +23 more
doaj   +3 more sources

Precise ERBB2 copy number assessment in breast cancer by means of molecular inversion probe array analysis. [PDF]

Oncotarget, 2016
HER2/ERBB2 amplification/overexpression determines the eligibility of breast cancer patients to HER2-targeted therapy. This study evaluates the agreement between ERBB2 copy number assessment by fluorescence in situ hybridization, a standard method ...
Christgen M, van Luttikhuizen JL, Raap M, Braubach P, Schmidt L, Jonigk D, Feuerhake F, Lehmann U, Schlegelberger B, Kreipe HH, Steinemann D.   +10 more
europepmc   +4 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