Results 101 to 110 of about 743,811 (309)
Genomic patterns of progression in smoldering multiple myeloma
Nature Communications, 2018 Smoldering MM (SMM) is a premalignant stage of multiple myeloma (MM). Here the authors perform whole genome sequencing of unique paired samples of SMM progressing to MM, and show that the genomic landscape at the SMM stage is very similar to MM, but ...
Niccolò Bolli +23 more
doaj +1 more source
Molecular Oncology, EarlyView.Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena +15 more
wiley +1 more source
Molecular Oncology, EarlyView.Circulating tumor cells (CTCs) and plasma cell‐free DNA (cfDNA) were analyzed to detect ESR1 mutations and methylation in patients with advanced breast cancer. CTC‐derived DNA showed higher sensitivity for mutation detection and revealed complementary genetic and epigenetic alterations, highlighting the added value of CTC analysis for understanding ...
Dimitra Stergiopoulou +12 more
wiley +1 more source
The complete mitochondrial genome of Yarrowia lipolytica
, 2008 We here report the complete nucleotide sequence of the 47.9 kb mitochondrial (mt) genome from the obligate aerobic yeast Yarrowia lipolytica.
Casaregola, Serge +4 more
core +1 more source
Hawkeye: An interactive visual analytics tool for genome assemblies [PDF]
, 2007 Genome sequencing remains an inexact science, and genome sequences can contain significant errors if they are not carefully examined. Hawkeye is our new visual analytics tool for genome assemblies, designed to aid in identifying and correcting assembly ...
Steven L Salzberg +11 more
core +1 more source
Interpreting the effects of DNA polymerase variants at the structural level
Molecular Oncology, EarlyView.Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi +7 more
wiley +1 more source
Molecular Oncology, EarlyView.Ixazomib inhibits proteasome‐mediated degradation of topoisomerase I induced by irinotecan, thereby restoring drug sensitivity and promoting tumor cell death in colorectal cancer. Irinotecan, a topoisomerase I (topoI) inhibitor, is widely used for colorectal cancer, but resistance remains a major clinical challenge.
Yuho Ebata +10 more
wiley +1 more source
LEGAL AND ETHICAL ASPECTS OF THE PARTICIPATION OF PERSONS WITH RESTRICTED ACTIVE LEGAL CAPACITY IN GENOME STUDIES [PDF]
Trames, 2004 Ülle Krikmann +6 more
doaj +1 more source
Molecular Oncology, EarlyView.A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel +12 more
wiley +1 more source