Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24489
Abstract: Macular degenerations (MDs) are a subgroup of retinal disorders characterized by central vision loss. Knowledge is still lacking on the extent of genetic and nongenetic factors influencing inherited MD (iMD) and age‐related MD (AMD) expression.… read more here.
Keywords: single molecule; cost effective; molecule molecular; high throughput ... See more keywords
Profiling of the metabolic transcriptome via single molecule molecular inversion probes
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-11035-0
Abstract: Cancer-specific metabolic alterations are of high interest as therapeutic targets. These alterations vary between tumor types, and to employ metabolic targeting to its fullest potential there is a need for robust methods that identify candidate… read more here.
Keywords: molecule molecular; molecular inversion; inversion probes; single molecule ... See more keywords
SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes derived data.
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DOI: 10.1093/bioinformatics/btac081
Abstract: MOTIVATION Single-molecule molecular inversion probes (SmMIPs) provide an exceptionally cost-effective and modular approach for routine or large-cohort next-generation sequencing. However, processing the derived raw data to generate highly accurate variants calls remains challenging. RESULTS We… read more here.
Keywords: single molecule; processing analysis; molecule molecular; smmip tools ... See more keywords
BRCA Testing by Single-Molecule Molecular Inversion Probes.
Sign Up to like & getrecommendations! Published in 2017 at "Clinical chemistry"
DOI: 10.1373/clinchem.2016.263897
Abstract: BACKGROUND Despite advances in next generation DNA sequencing (NGS), NGS-based single gene tests for diagnostic purposes require improvements in terms of completeness, quality, speed, and cost. Single-molecule molecular inversion probes (smMIPs) are a technology with… read more here.
Keywords: molecule; molecular inversion; single molecule; inversion probes ... See more keywords
Ultrasensitive Detection of Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms.
Sign Up to like & getrecommendations! Published in 2018 at "Clinical chemistry"
DOI: 10.1373/clinchem.2017.284737
Abstract: 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 transplantation patients, but existing assays… read more here.
Keywords: molecular inversion; detection; single molecule; chimerism ... See more keywords