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Compressed Genotyping [PDF]

open access: yesIEEE Transactions on Information Theory, 2009
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.
Brand, Michael   +4 more
core   +4 more sources

Two new rapid SNP-typing methods for classifying Mycobacterium tuberculosis complex into the main phylogenetic lineages [PDF]

open access: yes, 2012
There is increasing evidence that strain variation in Mycobacterium tuberculosis complex (MTBC) might influence the outcome of tuberculosis infection and disease.
A Deshpande   +82 more
core   +21 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

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

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

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

Germline genetic variation in prostate susceptibility does not predict outcomes in the chemoprevention trials PCPT and SELECT [PDF]

open access: yes, 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

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

Genetic Analysis of the Single-Nucleotide Polymorphisms rs880810, rs545793, rs80094639, and rs13251901 in Nonsyndromic Oral Clefts: A Case–Parent Trio Study

open access: yesGlobal Medical Genetics, 2023
Oral clefts, including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), are the most common types of congenital anomalies of the human face. Various genetic and environmental factors play a role in developing oral clefts.
Mahamad Irfanulla Khan   +4 more
doaj   +1 more source

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