ArticleGenomics2011
Evaluation of microsatellite variation in the 1000 Genomes Project pilot studies is indicative of the quality and utility of the raw data and alignments.
Article in Genomics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
28 citing papers in PubMed, 43 citations in OpenAlex.
- Native functions of short tandem repeats.eLife · 2023Article
- Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation.Genome research · 2023Article
- Tandem repeats mediating genetic plasticity in health and disease.Nature reviews. Genetics · 2018Review
- Long-range haplotype analysis of the malaria parasite receptor geneHuman genome variation · 2018Article
- High-depth, high-accuracy microsatellite genotyping enables precision lung cancer risk classification.Oncogene · 2017Article
- Huntington disease reduced penetrance alleles occur at high frequency in the general population.Neurology · 2016Article
- A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.BMC medical genomics · 2016Article
- Tandem repeat variation in human and great ape populations and its impact on gene expression divergence.Genome research · 2015Article
- 'Cut from the same cloth': Shared microsatellite variants among cancers link to ectodermal tissues-neural tube and crest cells.Oncotarget · 2015Article
- Population analysis of microsatellite genotypes reveals a signature associated with ovarian cancer.Oncotarget · 2015Article
- Accurate typing of short tandem repeats from genome-wide sequencing data and its applications.Genome research · 2015Article
- A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.Journal of medical genetics · 2014Article
- Somatic intronic microsatellite loci differentiate glioblastoma from lower-grade gliomas.Oncotarget · 2014Article
- VNTRseek-a computational tool to detect tandem repeat variants in high-throughput sequencing data.Nucleic acids research · 2014Article
- Divergence of Drosophila melanogaster repeatomes in response to a sharp microclimate contrast in Evolution Canyon, Israel.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Nicotine and oxidative stress induced exomic variations are concordant and overrepresented in cancer-associated genes.Oncotarget · 2014Article
- Article
- Microsatellite genotyping reveals a signature in breast cancer exomes.Breast cancer research and treatment · 2014Article
- Large-scale analysis of tandem repeat variability in the human genome.Nucleic acids research · 2014Article
- Discretized Gaussian mixture for genotyping of microsatellite loci containing homopolymer runs.Bioinformatics (Oxford, England) · 2014Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
We performed an analysis of global microsatellite variation on the two kindreds sequenced at high depth (~20×-60×) in the 1000 Genomes Project pilot studies because alterations in these highly mutable repetitive sequences have been linked with many phenotypes and disease risks. The standard alignment technique performs poorly in microsatellite regions as a consequence of low effective coverage (~1×-5×) resulting in 79% of the informative loci exhibiting non-Mendelian inheritance patterns. We used a more stringent approach in computing robust allelotypes resulting in 94.4% of the 1095 informative repeats conforming to traditional inheritance. The high-confidence allelotypes were analyzed to obtain an estimate of the minimum polymorphism rate as a function of motif length, motif sequence, and distribution within the genome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.