Results 21 to 30 of about 539,301 (229)

Asymptotics of the allele frequency spectrum associated with the Bolthausen-Sznitman coalescent

, 2007
We work in the context of the infinitely many alleles model. The allelic partition associated with a coalescent process started from n individuals is obtained by placing mutations along the skeleton of the coalescent tree; for each individual, we trace ...
Basdevant, Anne-Laure, Goldschmidt, Christina   +1 more
core   +5 more sources

Clinical applications of next‐generation sequencing‐based ctDNA analyses in breast cancer: defining treatment targets and dynamic changes during disease progression

Molecular Oncology, EarlyView.
Circulating tumor DNA (ctDNA) offers a possibility for different applications in early and late stage breast cancer management. In early breast cancer tumor informed approaches are increasingly used for detecting molecular residual disease (MRD) and early recurrence. In advanced stage, ctDNA provides a possibility for monitoring disease progression and
Eva Valentina Klocker, Samantha Hasenleithner, Rupert Bartsch, Simon P. Gampenrieder, Daniel Egle, Christian F. Singer, Gabriel Rinnerthaler, Michael Hubalek, Katja Schmitz, Zsuzsanna Bago‐Horvath, Andreas Petzer, Sonja Heibl, Ellen Heitzer, Marija Balic, Michael Gnant   +14 more
wiley   +1 more source

Allele frequency dynamics in a pedigreed natural population [PDF]

Proceedings of the National Academy of Sciences, 2018
A central goal of population genetics is to understand how genetic drift, natural selection, and gene flow shape allele frequencies through time. However, the actual processes underlying these changes—variation in individual survival, reproductive success, and movement—are often difficult to quantify.
Nancy Chen, Ivan Juric, Elissa J. Cosgrove, Reed Bowman, John W. Fitzpatrick, Stephan J. Schoech, Andrew G. Clark, Graham Coop   +7 more
openaire   +6 more sources

The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa [PDF]

, 2016
Transthyretin (TTR) pV142I (rs76992529-A) is one of the 113 variants in the human TTR gene associated with systemic amyloidosis. It results from a G to A transition at a CG dinucleotide in the codon for amino acid 122 of the mature protein (TTR V122I ...
Alexander, Alice A, Buxbaum, Joel N., Garvey, W. T, Jacobson, Daniel R, Kalidi, Issa, Modiano, David, Sirima, Sodiomon B, Tagoe, Clement, Tishkoff, Sara, Toure, Amadou, Williams, Scott M   +10 more
core   +1 more source

KRAS and GNAS mutations in cell‐free DNA and in circulating epithelial cells in patients with intraductal papillary mucinous neoplasms—an observational pilot study

Molecular Oncology, EarlyView.
This study demonstrates that KRAS and GNAS mutations are more prevalent in patients with resected intraductal papillary mucinous neoplasms (IPMN) compared to those under clinical surveillance. GNAS mutations significantly differ between the two patient cohorts, indicating that their absence may serve as a potential biomarker to support conservative ...
Christine Nitschke, Marie Tölle, Philipp Walter, Kira Meißner, Mara Goetz, Jolanthe Kropidlowski, Andreas W. Berger, Jakob R. Izbicki, Felix Nickel, Thilo Hackert, Klaus Pantel, Harriet Wikman, Faik G. Uzunoglu   +12 more
wiley   +1 more source

The effect of recurrent mutations on genetic diversity in a large population of varying size [PDF]

, 2016
Recurrent mutations are a common phenomenon in population genetics. They may be at the origin of the fixation of a new genotype, if they give a phenotypic advantage to the carriers of the new mutation.
Smadi, Charline
core   +3 more sources

Circulating tumor DNA (ctDNA) trajectories predict survival in trifluridine/tipiracil‐treated metastatic colorectal cancer patients

Molecular Oncology, EarlyView.
The authors applied joint/mixed models that predict mortality of trifluridine/tipiracil‐treated metastatic colorectal cancer patients based on circulating tumor DNA (ctDNA) trajectories. Patients at high risk of death could be spared aggressive therapy with the prospect of a higher quality of life in their remaining lifetime, whereas patients with a ...
Matthias Unseld, Stefan Kühberger, Ricarda Graf, Christine Beichler, Markus Braun, Nadia Dandachi, Ellen Heitzer, Gerald W. Prager   +7 more
wiley   +1 more source

TP73allelic expression in human brain and allele frequencies in Alzheimer's disease [PDF]

BMC Medical Genetics, 2004
Background: The p73 protein, a paralogue of the p53 tumor suppressor, is essential for normal development and survival of neurons. TP73 is therefore of interest as a candidate gene for Alzheimer's disease (AD) susceptibility. TP73 mRNA is transcribed from three promoters, termed P1 – P3, and there is evidence for an additional complexity in its ...
Li, Quanyi, Athan, Eleni, Wei, Michelle L., Yuan, Eric, Rice, Samuel, Vonsattel, Jean Paul, Mayeux, Richard Paul, Tycko, Benjamin   +7 more
openaire   +5 more sources

Properties of neutrality tests based on allele frequency spectrum [PDF]

, 2010
One of the main necessities for population geneticists is the availability of statistical tools that enable to accept or reject the neutral Wright-Fisher model with high power.
Ferretti, Luca, Marmorini, Giacomo, Ramos-Onsins, Sebastian   +2 more
core  

Detection rate for ESR1 mutations is higher in circulating‐tumor‐cell‐derived genomic DNA than in paired plasma cell‐free DNA samples as revealed by ddPCR

Molecular Oncology, EarlyView.
Analysis of ESR1 mutations in plasma cell‐free DNA (cfDNA) is highly important for the selection of treatment in patients with breast cancer. Using multiplex‐ddPCR and identical blood draws, we investigated whether circulating tumor cells (CTCs) and cfDNA provide similar or complementary information for ESR1 mutations.
Stavroula Smilkou, Aliki Ntzifa, Victoria Tserpeli, Ioanna Balgkouranidou, Alkistis Papatheodoridi, Evangelia Razis, Helena Linardou, Christos Papadimitriou, Amanda Psyrri, Flora Zagouri, Stylianos Kakolyris, Evi Lianidou   +11 more
wiley   +1 more source