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
High-quality genome assembly of Chironomus riparius and its population history in European populations. [PDF]
Pettrich LC +3 more
europepmc +1 more source
This study shows that lung adenocarcinomas exploit developmental branching morphogenesis to acquire a therapy resistant basal‐like tumour cell state. This process was found to be regulated by combined TP53 loss‐of‐function and type‐I interferon signalling, identifying a novel axis for biomarker and therapeutic target discovery.
Kamila J Bienkowska +13 more
wiley +1 more source
Unveiling the Genomic Landscape of Yan Goose (Anser cygnoides): Insights into Population History and Selection Signatures for Growth and Adaptation. [PDF]
Qi S +5 more
europepmc +1 more source
Modeling of African population history using f-statistics is biased when applying all previously proposed SNP ascertainment schemes. [PDF]
Flegontov P +5 more
europepmc +1 more source
Combining osimertinib with the STING agonist ADU‐S100 activates innate and adaptive immunity to overcome the non‐inflamed microenvironment of Egfr‐mutant lung cancer. This combination increases NK and CD8+ T‐cell infiltration, associated with activation of the STING‐IRF3 pathway and local immunogenic cell death.
Jun Nishimura +19 more
wiley +1 more source
Human population history on the North Coast of peru from Y chromosomes and mitogenomes. [PDF]
Huber LL +13 more
europepmc +1 more source
The Impact of Sample Size and Population History on Observed Mutational Spectra: A Case Study in Human and Chimpanzee Populations. [PDF]
Ghafoor S +4 more
europepmc +1 more source
Finding novel vulnerabilities of hypomorphic BRCA1 alleles
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder +10 more
wiley +1 more source
Population History Across Timescales in an Urban Archipelago. [PDF]
Howell EK +2 more
europepmc +1 more source

