Multiple testing for SNP-SNP interactions [PDF]
Statistical Applications in Genetics and Molecular Biology, 2007 Most genetic diseases are complex, i.e. associated to combinations of SNPs rather than individual SNPs. In the last few years, this topic has often been addressed in terms of SNP-SNP interaction patterns given as expressions linked by logical operators ...
Boulesteix, Anne-Laure +4 more
core +5 more sources
GBS-SNP-CROP: a reference-optional pipeline for SNP discovery and plant germplasm characterization using variable length, paired-end genotyping-by-sequencing data [PDF]
BMC Bioinformatics, 2016 Background: With its simple library preparation and robust approach to genome reduction, genotyping-by-sequencing (GBS) is a flexible and cost-effective strategy for SNP discovery and genotyping, provided an appropriate reference genome is available. For
Bartaula, Radhika +2 more
core +3 more sources
A robust SNP barcode for typing Mycobacterium tuberculosis complex strains [PDF]
Nature Communications, 2014 Strain-specific genomic diversity in the Mycobacterium tuberculosis complex (MTBC) is an important factor in pathogenesis that may affect virulence, transmissibility, host response and emergence of drug resistance.
A McKenna +33 more
core +3 more sources
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data [PDF]
Bioinform., 2011 MOTIVATION Most existing methods for DNA sequence analysis rely on accurate sequences or genotypes. However, in applications of the next-generation sequencing (NGS), accurate genotypes may not be easily obtained (e.g. multi-sample low-coverage sequencing
Heng Li
semanticscholar +1 more source
Clinical Significance and Management of Hyponatremia in Liver Cirrhosis
Gastroenterology Insights, 2023 The overall prevalence of hyponatremia in cirrhotics is around 50%. Hypovolemic hyponatremia is a result of excessive fluid loss caused mostly by diuretic treatment or diarrhea.
Martin Janičko +6 more
doaj +1 more source
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
Nature Genetics, 2022 Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking strategies have been developed to link regulatory SNPs to the genes that they regulate ...
S. Gazal +12 more
semanticscholar +1 more source
SNP-Flankplus: SNP ID-centric retrieval for SNP flanking sequences [PDF]
Bioinformation, 2008 The flanking sequences provided by dbSNP of NCBI are usually short and fixed length without further extension, thus making the design of appropriate PCR primers difficult. Here, we introduce a tool named "SNP-Flankplus" to provide a web environment for retrieval of SNP flanking sequences from both the dbSNP and the nucleotide databases of NCBI. Two SNP
Cheng-Hong, Yang +3 more
openaire +2 more sources
Selected In Situ Hybridization Methods: Principles and Application
Molecules, 2021 We are experiencing rapid progress in all types of imaging techniques used in the detection of various numbers and types of mutation. In situ hybridization (ISH) is the primary technique for the discovery of mutation agents, which are presented in a ...
Dominika Veselinyová +5 more
doaj +1 more source
SNPsyn: detection and exploration of SNP–SNP interactions [PDF]
Nucleic Acids Research, 2011 SNPsyn (http://snpsyn.biolab.si) is an interactive software tool for the discovery of synergistic pairs of single nucleotide polymorphisms (SNPs) from large genome-wide case-control association studies (GWAS) data on complex diseases. Synergy among SNPs is estimated using an information-theoretic approach called interaction analysis.
Curk, Tomaz, Rot, Gregor, Zupan, Blaz
openaire +3 more sources
Biomedicines, 2023 Purpose: The development of sensitive and non-invasive biomarkers for the early detection of CRC and determination of their role in the individual stages of CRC.
Ivana Večurkovská +7 more
doaj +1 more source