Results 11 to 20 of about 353,887 (261)

High quality copy number and genotype data from FFPE samples using Molecular Inversion Probe (MIP) microarrays [PDF]

BMC Medical Genomics, 2009
Background A major challenge facing DNA copy number (CN) studies of tumors is that most banked samples with extensive clinical follow-up information are Formalin-Fixed Paraffin Embedded (FFPE).
Bondy Melissa, Walther Axel, Warren Robert, Richardson Andrea L, Wang Zhigang C, Moorhead Martin, Zhang Li, Sapolsky Ronald, Karlin-Neumann George, Carlton Victoria EH, Wang Yuker, Sahin Aysegul, Krahe Ralf, Tuna Musaffe, Thompson Patricia A, Spellman Paul T, Gray Joe W, Mills Gordon B, Faham Malek   +18 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   +2 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   +2 more sources

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

Cancer Genet, 2012
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

Accurate Pan-Cancer Molecular Diagnosis of Microsatellite Instability by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing. [PDF]

Clin Chem, 2018
BACKGROUND Microsatellite instability (MSI) is an emerging actionable phenotype in oncology that informs tumor response to immune checkpoint pathway immunotherapy.
Waalkes A, Smith N, Penewit K, Hempelmann J, Konnick EQ, Hause RJ, Pritchard CC, Salipante SJ.   +7 more
europepmc   +2 more sources

Ultrasensitive Detection of Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms. [PDF]

Clin Chem, 2018
BACKGROUND Genomic chimerism, the co-occurrence of cells from different genetic origins, provides important diagnostic information in diverse clinical contexts, including graft injury detection and longitudinal surveillance of hematopoietic stem cell ...
Wu D, Waalkes A, Penewit K, Salipante SJ.   +3 more
europepmc   +2 more sources

Quantification and localization of oncogenic receptor tyrosine kinase variant transcripts using molecular inversion probes [PDF]

Scientific Reports, 2018
Oncogenic membrane receptor tyrosine kinases such as MET and EGFR, or auto-active variants thereof, are important targets for cancer precision therapy.
Corina N. A. M. van den Heuvel, Arvid I. Das, Tessa de Bitter, Femke Simmer, Thomas Wurdinger, Miguel Angel Molina-Vila, William P. J. Leenders   +6 more
doaj   +2 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   +2 more sources

Molecular inversion probe assay for allelic quantitation. [PDF]

Methods Mol Biol, 2009
Ji H, Welch K.
europepmc   +4 more sources

Bayesian hierarchical structured variable selection methods with application to molecular inversion probe studies in breast cancer [PDF]

, 2014
The analysis of genomics alterations that may occur in nature when segments of chromosomes are copied (known as copy number alterations) has been a focus of research to identify genetic markers of cancer.
Lin Zhang, V. Baladandayuthapani, B. Mallick, G. Manyam, P. Thompson, M. Bondy, K. Do   +6 more
semanticscholar   +2 more sources