Results 1 to 10 of about 1,131,107 (370)

Pooled DNA genotyping on Affymetrix SNP genotyping arrays [PDF]

open access: yesBMC Genomics, 2006
Background Genotyping technology has advanced such that genome-wide association studies of complex diseases based upon dense marker maps are now technically feasible. However, the cost of such projects remains high.
Owen Michael J   +5 more
doaj   +4 more sources

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

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

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 ...
Partha P. Mitra   +4 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

ON THE FINDABILITY OF GENOTYPES [PDF]

open access: yesEvolution, 2013
Can we define a measure that describes how easy or difficult it is for a population to evolve to a specific genotype? For populations evolving under weak mutation on a time-invariant fitness landscape, I argue that one appropriate measure is the expected waiting time, starting from equilibrium, for a population to become fixed for a given genotype ...
David M. McCandlish, David M. McCandlish
openaire   +3 more sources

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

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