A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients. [PDF]
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 +17 more
europepmc +4 more sources
Ultrasensitive Quantitation of Genomic Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms. [PDF]
Wu D +7 more
europepmc +4 more sources
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 +18 more
doaj +3 more sources
Investigating Single-Molecule Molecular Inversion Probes for Medium-Scale Targeted DNA Methylation Analysis [PDF]
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 +3 more
doaj +3 more sources
An improved molecular inversion probe based targeted sequencing approach for low variant allele frequency. [PDF]
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 +16 more
europepmc +2 more sources
Accurate Pan-Cancer Molecular Diagnosis of Microsatellite Instability by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing. [PDF]
BACKGROUND Microsatellite instability (MSI) is an emerging actionable phenotype in oncology that informs tumor response to immune checkpoint pathway immunotherapy.
Waalkes A +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]
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 +3 more
europepmc +2 more sources
Genome-wide copy number aberrations and HER2 and FGFR1 alterations in primary breast cancer by molecular inversion probe microarray. [PDF]
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 +20 more
europepmc +2 more sources
Molecular inversion probe analysis detects novel copy number alterations in Ewing sarcoma. [PDF]
Jahromi MS +14 more
europepmc +4 more sources
Ultrasensitive detection of acute myeloid leukemia minimal residual disease using single molecule molecular inversion probes [PDF]
The identification of minimal residual disease is the primary diagnostic finding which predicts relapse in patients treated for acute myeloid leukemia. Ultrasensitive detection of minimal residual disease would enable better patient risk stratification ...
Adam Waalkes +4 more
doaj +2 more sources

