Accurate detection of complex structural variations using single-molecule sequencing

Keywords

Computer scienceStructural variationIdentification (biology)Computational biologyField (mathematics)Data miningFilter (signal processing)GenomeBiologyGeneticsGene

Affiliated Institutions

Related Publications

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Johan T. den Dunnen , Raymond Dalgleish , Donna Maglott +7 more

The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics criti...

2016 Human Mutation 1593 citations

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

Abel González-Pérez , Núria López-Bigas

2011 The American Journal of Human Genetics 768 citations

PurityEst: estimating purity of human tumor samples using next-generation sequencing data

Xiaoping Su , Li Zhang , Jianping Zhang +2 more

Abstract Summary: We developed a novel algorithm, PurityEst, to infer the tumor purity level from the allelic differential representation of heterozygous loci with somatic mutat...

2012 Bioinformatics 77 citations

The Human Genome Project

Eric D. Green , R Waterston

The recently initiated human genome project is a large international effort to elucidate the genetic architecture of the genomes of man and several model organisms. The initial ...

1991 JAMA 35 citations

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

Yali Xue , Yuan Chen , Qasim Ayub +8 more

We have assessed the numbers of potentially deleterious variants in the genomes of apparently healthy humans by using (1) low-coverage whole-genome sequence data from 179 indivi...

2012 The American Journal of Human Genetics 277 citations

Publication Info

Year: 2018
Type: article
Volume: 15
Issue: 6
Pages: 461-468
Citations: 1775
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

Accurate detection of complex structural variations using single-molecule sequencing

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

1775

OpenAlex

Cite This

APA Style

                            
                                
                                    Fritz J. Sedlazeck, 
                                
                                    Philipp Rescheneder, 
                                
                                    Moritz Smolka
                                
                                et al.
                            
                            (2018). 
                            Accurate detection of complex structural variations using single-molecule sequencing. 
                            Nature Methods
                            , 15
                            (6)
                            , 461-468.
                            https://doi.org/10.1038/s41592-018-0001-7
                        

Identifiers

DOI: 10.1038/s41592-018-0001-7