The noncoding region of the genome plays a key role in regulating gene expression, and mutations within these regions are capable of altering it. Researchers have identified multiple functional noncoding mutations associated with increased cancer risk in the genome of breast cancer patients.
Arnau Cuy Saqués +3 more
wiley +1 more source
Development of an APC and TP53-based duplex sequencing assay to positively predict colorectal cancer response to anti-EGFR therapy. [PDF]
Yang M +7 more
europepmc +1 more source
Whole Genome-Sequencing and Phylogenetic Analysis of Bacillus anthracis from 2019–2023 in Ningxia Hui Autonomous Region, China [PDF]
Ran Xian +8 more
openalex +1 more source
523 Disease-targeted next generation sequencing identifies mutations in consanguineous families with phenotypic spectrum of ichthyoses [PDF]
Hassan Vahidnezhad +9 more
openalex +1 more source
We developed and validated a DNA methylation–based biomarker panel to distinguish pleural mesothelioma from other pleural conditions. Using the IMPRESS technology, we translated this panel into a clinically applicable assay. The resulting two classifier models demonstrated excellent performance, achieving high AUC values and strong diagnostic accuracy.
Janah Vandenhoeck +12 more
wiley +1 more source
Targeted long-read nanopore sequencing as a complementary approach for detecting STRC variants and distinguishing the STRCP1 pseudogene. [PDF]
Moteki H, Nishio SY, Usami SI.
europepmc +1 more source
Strength through diversity: how cancers thrive when clones cooperate
Intratumor heterogeneity can offer direct benefits to the tumor through cooperation between different clones. In this review, Kuiken et al. discuss existing evidence for clonal cooperativity to identify overarching principles, and highlight how novel technological developments could address remaining open questions.
Marije C. Kuiken +3 more
wiley +1 more source
Optimising Genome-Wide Detection of Runs of Homozygosity: Impacts of Reference Genome Quality and Sequencing Parameters on Inbreeding Assessment. [PDF]
Shi M, Li H, Shafer ABA, Lan T.
europepmc +1 more source

