Results 81 to 90 of about 1,221,818 (402)

Allele Frequencies Database [PDF]

Transfusion Medicine and Hemotherapy, 2014
This review describes a database for the collection, archiving, sorting, searching and display of gene and allele frequencies for immunogenetic genes.
Faviel F. Gonzalez-Galarza, Louise Y. Takeshita, Andrew R. Jones, Derek Middleton   +3 more
openaire   +3 more sources

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

Polimorfismos reguladores y su participación en la patogenia de enfermedades complejas en la era posgenómica Polymorphisms in gene regulatory regions and their role in the physiopathology of complex disease in the post-genomic era

Salud Pública de México, 2009
El estudio de la participación de la variación genética en la predisposición a las enfermedades complejas ha cobrado nuevas dimensiones en la era genómica.
Jesús Hernández-Romano, Jesús Martínez-Barnetche, Verónica Valverde-Garduño   +2 more
doaj  

Common alleles contribute to schizophrenia in CNV carriers

Molecular Psychiatry, 2015
The genetic architecture of schizophrenia is complex, involving risk alleles ranging from common alleles of weak effect to rare alleles of large effect, the best exemplar of the latter being large copy number variants (CNVs).
K. Tansey, E. Rees, D. Linden, S. Ripke, S. Ripke, K. Chambert, J. Moran, S. Mccarroll, S. Mccarroll, P. Holmans, G. Kirov, J. Walters, M. Owen, M. O’Donovan   +13 more
semanticscholar   +1 more source

Robust acute myeloid leukemia engraftment in humanized scaffolds using injectable biomaterials and intravenous xenotransplantation

Molecular Oncology, EarlyView.
Patient‐derived xenografts (PDXs) can be improved by implantation of a humanized niche. We tested different biomaterials and approaches, and demonstrate that the combination of an injectable biomaterial for scaffold creation plus an intravenous route for acute myeloid leukemia (AML) xenotransplantation provide the most convenient and robust approach to
Daniel Busa, Zdenka Herudkova, Jan Hyl, Jakub Vlazny, Filip Sokol, Kvetoslava Matulova, Adam Folta, Jakub Hynst, Lucy Vojtova, Leos Kren, Martin Repko, Zdenek Racil, Jiri Mayer, Martin Culen   +13 more
wiley   +1 more source

IDENTIFICATION OF ROTAVIRUS I- AND E-GENOTYPES BY MULTIPLEX PCR METHOD

Вопросы вирусологии, 2019
Introduction. In recent years the presence of reassortant rotavirus strains is increasingly mentioned in the world due to the application of the full-genome based classification system.
T. A. Sashina, O. V. Morozova, N. V. Epifanova, N. A. Novikova   +3 more
doaj   +1 more source

Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical diagnostics

Molecular Oncology, EarlyView.
In molecular cancer diagnostics, comprehensive genomic profiling (CGP) is going to replace the small NGS panels since it provides all clinically relevant somatic variants as well as genomic biomarkers with clinical value. Here, we compared two CGP assays and demonstrate that the choice for diagnostic implementation will depend on the specific ...
Guy Froyen, Pieter‐Jan Volders, Ellen Geerdens, Severine Berden, Joni Van der Meulen, Aaron De Cock, Stefanie Vermeire, Jacques Van Huysse, Marie de Barsy, Gabriela Beniuga, Wendy W. J. de Leng, Anne M. L. Jansen, Imke Demers, Zeliha Ozgur, Hendrikus Jan Dubbink, Ernst‐Jan M. Speel, Wilfred F. J. van IJcken, Brigitte Maes   +17 more
wiley   +1 more source

Latent mutations in the ancestries of alleles under selection [PDF]

arXiv, 2023
We consider a single genetic locus with two alleles $A_1$ and $A_2$ in a large haploid population. The locus is subject to selection and two-way, or recurrent, mutation. Assuming the allele frequencies follow a Wright-Fisher diffusion and have reached stationarity, we describe the asymptotic behaviors of the conditional gene genealogy and the latent ...
arxiv  

Invasive Allele Spread under Preemptive Competition [PDF]

, 2005
We study a discrete spatial model for invasive allele spread in which two alleles compete preemptively, initially only the "residents" (weaker competitors) being present. We find that the spread of the advantageous mutation is well described by homogeneous nucleation; in particular, in large systems the time-dependent global density of the resident ...
arxiv   +1 more source

Per-sample immunoglobulin germline inference from B cell receptor deep sequencing data [PDF]

PLoS Comput Biol 15(7): e1007133 (2019), 2017
The collection of immunoglobulin genes in an individual's germline, which gives rise to B cell receptors via recombination, is known to vary significantly across individuals. In humans, for example, each individual has only a fraction of the several hundred known V alleles.
arxiv   +1 more source