Results 11 to 20 of about 456,399 (317)

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

Compressed Genotyping [PDF]

open access: yesIEEE Transactions on Information Theory, 2010
Significant volumes of knowledge have been accumulated in recent years linking subtle genetic variations to a wide variety of medical disorders from Cystic Fibrosis to mental retardation. Nevertheless, there are still great challenges in applying this knowledge routinely in the clinic, largely due to the relatively tedious and expensive process of DNA ...
Yaniv Erlich   +4 more
openaire   +4 more sources

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

Genotype Imputation [PDF]

open access: yesAnnual Review of Genomics and Human Genetics, 2009
Genotype imputation is now an essential tool in the analysis of genome-wide association scans. This technique allows geneticists to accurately evaluate the evidence for association at genetic markers that are not directly genotyped. Genotype imputation is particularly useful for combining results across studies that rely on different genotyping ...
Yun Li   +3 more
openaire   +3 more sources

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

SARS-CoV-2 Delta and Omicron Variants Surge in Curitiba, Southern Brazil, and Its Impact on Overall COVID-19 Lethality

open access: yesViruses, 2022
Screening efforts and genomic surveillance are essential tools to evaluate the course of the COVID-19 pandemic and assist the public healthcare system in dealing with an increasing number of infections.
Douglas Adamoski   +14 more
doaj   +1 more source

Detection of bvdv 1q in china: genetic characterization and experimental infection for the investigation of it"s pathogenicity [PDF]

open access: yesKafkas Universitesi Veteriner Fakültesi Dergisi, 2020
Bovine viral diarrhea virus (BVDV) is a pathogen that affects ruminants worldwide and is one of the most economically important diseases of cattle.
Yanhua HE   +7 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

Special features of RAD Sequencing data:implications for genotyping [PDF]

open access: yes, 2012
Restriction site-associated DNA Sequencing (RAD-Seq) is an economical and efficient method for SNP discovery and genotyping. As with other sequencing-by-synthesis methods, RAD-Seq produces stochastic count data and requires sensitive analysis to develop ...
Fuentes-Utrilla, Pablo   +12 more
core   +1 more source

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