Results 1 to 10 of about 510,619 (336)
Bioinformatics, 2009 Abstract Motivation: High throughput sequencing technologies generate large amounts of short reads. Mapping these to a reference sequence consumes large amounts of processing time and memory, and read mapping errors can lead to noisy or incorrect alignments. SNP-o-matic is a fast, memory-efficient and stringent read mapping tool offering
Magnus Manske, Dominic Kwiatkowski
openalex +5 more sources
SNP rs4420638; SNP rs11159647; SNP rs3826656 [PDF]
Science-Business eXchange, 2008 openalex +2 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
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.
Anne-Laure, Boulesteix +4 more
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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
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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
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
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SNP-VISTA: An interactive SNP visualization tool [PDF]
BMC Bioinformatics, 2005 Abstract Background Recent advances in sequencing technologies promise to provide a better understanding of the genetics of human disease as well as the evolution of microbial populations. Single Nucleotide Polymorphisms (SNPs) are established genetic markers that aid in the identification of loci affecting quantitative ...
Shah, Nameeta +6 more
openaire +5 more sources