ArticlePLoS computational biology2012
Chapter 6: Structural variation and medical genomics.
Article in PLoS computational biology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- High dynamism for neo-sex chromosomes: satellite DNAs reveal complex evolution in a grasshopper.Heredity · 2020Article
- Quantitative evaluation of the molecular marker using droplet digital PCR.Genomics & informatics · 2020Article
- Challenges in identifying large germline structural variants for clinical use by long read sequencing.Computational and structural biotechnology journal · 2020Review
- A high-quality cucumber genome assembly enhances computational comparative genomics.Molecular genetics and genomics : MGG · 2020Article
- Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.Nature communications · 2019Article
- Review: Precision medicine and driver mutations: Computational methods, functional assays and conformational principles for interpreting cancer drivers.PLoS computational biology · 2019Review
- Precision medicine review: rare driver mutations and their biophysical classification.Biophysical reviews · 2019Review
- Survival of the Curviest: Noise-Driven Selection for Synergistic Epistasis.PLoS genetics · 2016Article
- A network-based method to evaluate quality of reproducibility of differential expression in cancer genomics studies.Oncotarget · 2015Article
- Detecting non-allelic homologous recombination from high-throughput sequencing data.Genome biology · 2015Article
- SV-AUTOPILOT: optimized, automated construction of structural variation discovery and benchmarking pipelines.BMC genomics · 2015Article
- Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.Nucleic acids research · 2015Article
- BreaKmer: detection of structural variation in targeted massively parallel sequencing data using kmers.Nucleic acids research · 2015Article
- The structural basis for cancer treatment decisions.Oncotarget · 2014Review
- Structural variations in plant genomes.Briefings in functional genomics · 2014Article
- Molecular genetic testing and the future of clinical genomics.Nature reviews. Genetics · 2013Review
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Abstract
Differences between individual human genomes, or between human and cancer genomes, range in scale from single nucleotide variants (SNVs) through intermediate and large-scale duplications, deletions, and rearrangements of genomic segments. The latter class, called structural variants (SVs), have received considerable attention in the past several years as they are a previously under appreciated source of variation in human genomes. Much of this recent attention is the result of the availability of higher-resolution technologies for measuring these variants, including both microarray-based techniques, and more recently, high-throughput DNA sequencing. We describe the genomic technologies and computational techniques currently used to measure SVs, focusing on applications in human and cancer genomics.
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