Results 71 to 80 of about 201,829 (351)
Population Ecology, EarlyView.In this article, we tested optimal SNP filtering strategies for accurate parentage assignment and pedigree reconstruction for a wild population of red‐spotted masu salmon, Oncorhynchus masou ishikawae. We found that mid‐point filtering in terms of call rate and minor allele frequency performs well for pedigree reconstruction.
Shohei Noda +6 more
wiley +1 more source
Allelic variants of KLK2 gene predict presence of prostate cancer at biopsy [PDF]
, 2016 Objective: Several single nucleotide polymorphisms associated with prostate cancer risk have been reported in recent years. We evaluated polymorphisms in the human glandular kallikrein 2 (KLK2) genes because the protein product of this gene is known to ...
Bailey, Tracey +2 more
core +1 more source
Bipartite Community Structure of eQTLs [PDF]
, 2015 Genome Wide Association Studies (GWAS) and eQTL analyses have produced a large and growing number of genetic associations linked to a wide range of human phenotypes. As of 2013, there were more than 11,000 SNPs associated with a trait as reported in the NHGRI GWAS Catalog.
arxiv +1 more source
Assessing the Reproducibility of Machine-learning-based Biomarker Discovery in Parkinson's Disease [PDF]
arXiv, 2023 Genome-Wide Association Studies (GWAS) help identify genetic variations in people with diseases such as Parkinson's disease (PD), which are less common in those without the disease. Thus, GWAS data can be used to identify genetic variations associated with the disease.
arxiv
Population Ecology, EarlyView.In this study, we compared three methods for kinship identification using different algorithms in samples of wild Pacific bluefin tuna and generated genotyping data. The three methods resulted in different numbers of inferred kinship pairs for both generated and actual data. Particularly for the half‐sibling pairs, considerable number of false‐positive
Yohei Tsukahara +5 more
wiley +1 more source
High-Density Genotypes of Inbred Mouse Strains: Improved Power and Precision of Association Mapping. [PDF]
, 2015 Human genome-wide association studies have identified thousands of loci associated with disease phenotypes. Genome-wide association studies also have become feasible using rodent models and these have some important advantages over human studies ...
Churchill, Gary A +6 more
core +1 more source
Integrating sequencing datasets to form highly confident SNP and indel genotype calls for a whole human genome [PDF]
, 2013 Clinical adoption of human genome sequencing requires methods with known accuracy of genotype calls at millions or billions of positions across a genome. Previous work showing discordance amongst sequencing methods and algorithms has made clear the need for a highly accurate set of genotypes across a whole genome that could be used as a benchmark.
arxiv +1 more source
Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays [PDF]
Annals of Applied Statistics 2008, Vol. 2, No. 2, 687-713, 2008 Chromosomal DNA is characterized by variation between individuals at the level of entire chromosomes (e.g., aneuploidy in which the chromosome copy number is altered), segmental changes (including insertions, deletions, inversions, and translocations), and changes to small genomic regions (including single nucleotide polymorphisms).
arxiv +1 more source
Molecular Oncology, EarlyView.Tumor‐informed whole‐genome sequencing (MRD‐EDGESNV) was applied to detect circulating tumor DNA (ctDNA) in patients with colorectal adenomas. Using a 95% specificity threshold, established from stage III colorectal cancer patients, ctDNA was detected in 50% of symptomatic and 25% of asymptomatic adenoma cases with median tumor fractions of 5.9 × 10−5 ...
Amanda Frydendahl +13 more
wiley +1 more source
SNiPlay: a web-based tool for detection, management and analysis of SNP (C900) [PDF]
, 2011 The rapidly increasing amount of re-sequencing and genotyping data generated by large-scale genetic diversity projects requires the development of integrated bioinformatics tools able to efficiently manage, analyze, and combine genetic data with the ...
Bacilieri, Roberto +8 more
core