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IEEE 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 ...
Erlich, Yaniv +4 more
openaire +5 more sources
Unifying candidate gene and GWAS Approaches in Asthma. [PDF]
, 2010 The first genome wide association study (GWAS) for childhood asthma identified a novel major susceptibility locus on chromosome 17q21 harboring the ORMDL3 gene, but the role of previous asthma candidate genes was not specifically analyzed in this GWAS ...
Berg, Andrea von +21 more
core +23 more sources
Pharmaceutics, 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
Pharmaceutics, 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
Genetic diversity of leafy kale genetic resources (Brassica oleracea var. acephala L.) [PDF]
Agroznanje, 2023 Leafy kale (Brassica oleracea var. acephala L.) is one of the most important Brassicaceae species with health-promoting properties and great diversity. To investigate variability within and among accessions, 12 accessions (each accession comprised four ...
Umićević Sonja +9 more
doaj +1 more source
Annual 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
mBio, 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
A crowdsourcing database for the copy-number variation of the Spanish population
Human 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
Scientific 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
Germline genetic variation in prostate susceptibility does not predict outcomes in the chemoprevention trials PCPT and SELECT [PDF]
, 2020 Background The development of prostate cancer can be influenced by genetic and environmental factors. Numerous germline SNPs influence prostate cancer susceptibility.
Ahmed, M +7 more
core +2 more sources