Results 1 to 10 of about 1,163,135 (344)

POLRMT as a Novel Susceptibility Gene for Cardiotoxicity in Epirubicin Treatment of Breast Cancer Patients

open access: yesPharmaceutics, 2021
Anthracyclines are among the most used chemotherapeutic agents in breast cancer (BC). However their use is hampered by anthracycline-induced cardiotoxicity (AIC).
Alejandro Velasco-Ruiz   +14 more
doaj   +1 more source

A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact

open access: yesPharmaceutics, 2023
The implementation of pharmacogenetics (PGx) is a main milestones of precision medicine nowadays in order to achieve safer and more effective therapies. Nevertheless, the implementation of PGx diagnostics is extremely slow and unequal worldwide, in part ...
Rocio Nunez-Torres   +10 more
doaj   +1 more source

Comparison of metagenomic and targeted methods for sequencing human pathogenic viruses from wastewater

open access: yesmBio, 2023
Wastewater-based epidemiology is a powerful tool for monitoring the emergence and spread of viral pathogens at the population scale. Typical polymerase chain reaction (PCR)-based methods of quantitative and genomic monitoring of viruses in wastewater ...
Harry T. Child   +13 more
doaj   +1 more source

Cellsnp-lite: an efficient tool for genotyping single cells

open access: yesbioRxiv, 2021
Summary Single-cell sequencing is an increasingly used technology and has promising applications in basic research and clinical translations. However, genotyping methods developed for bulk sequencing data have not been well adapted for single-cell data ...
Xianjie Huang, Yuanhua Huang
semanticscholar   +1 more source

A crowdsourcing database for the copy-number variation of the Spanish population

open access: yesHuman Genomics, 2023
Background Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly understood.
Daniel López-López   +13 more
doaj   +1 more source

Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants

open access: yesScientific Reports, 2022
Only up to 25% of the cases in which there is a familial aggregation of breast and/or ovarian cancer are explained by germline mutations in the well-known BRCA1 and BRCA2 high-risk genes.
B. Benito-Sánchez   +11 more
doaj   +1 more source

A Proof-of-Principle Study of Non-invasive Identification of Peanut Genotypes and Nematode Resistance Using Raman Spectroscopy

open access: yesFrontiers in Plant Science, 2022
Identification of peanut cultivars for distinct phenotypic or genotypic traits whether using visual characterization or laboratory analysis requires substantial expertise, time, and resources.
William Z. Payne   +8 more
doaj   +1 more source

A framework for variation discovery and genotyping using next-generation DNA sequencing data

open access: yesNature Genetics, 2011
Recent advances in sequencing technology make it possible to comprehensively catalog genetic variation in population samples, creating a foundation for understanding human disease, ancestry and evolution.
M. DePristo   +17 more
semanticscholar   +1 more source

Multicenter Outbreak of Infections by Saprochaete clavata, an Unrecognized Opportunistic Fungal Pathogen

open access: yesmBio, 2014
Rapidly fatal cases of invasive fungal infections due to a fungus later identified as Saprochaete clavata were reported in France in May 2012. The objectives of this study were to determine the clonal relatedness of the isolates and to investigate ...
Sophie Vaux   +8 more
doaj   +1 more source

A Robust, Simple Genotyping-by-Sequencing (GBS) Approach for High Diversity Species

open access: yesPLoS ONE, 2011
Advances in next generation technologies have driven the costs of DNA sequencing down to the point that genotyping-by-sequencing (GBS) is now feasible for high diversity, large genome species.
Robert J. Elshire   +6 more
semanticscholar   +1 more source

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