Results 11 to 20 of about 237,920 (292)

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

open access: diamondOncotarget, 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   +17 more
europepmc   +4 more sources

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

open access: greenBMC 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   +18 more
doaj   +3 more sources

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

open access: diamondEpigenomes
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]

open access: yesNAR 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   +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]

open access: yesClin Chem, 2018
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]

open access: yesClin 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   +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]

open access: yesOncotarget, 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   +20 more
europepmc   +2 more sources

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

open access: greenCancer Genet, 2012
Jahromi MS   +14 more
europepmc   +4 more sources

Ultrasensitive detection of acute myeloid leukemia minimal residual disease using single molecule molecular inversion probes [PDF]

open access: goldHaematologica, 2017
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

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