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Discovery of tandem and interspersed segmental duplications using high throughput sequencing

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1007/978-3-540-78839-3_5openalex-snapshot

Ab Initio Whole Genome Shotgun Assembly with Mated Short Reads

inferredcites →https://doi.org/10.1007/978-3-642-02008-7_16openalex-snapshot

Combinatorial Algorithms for Structural Variation Detection in High Throughput Sequenced Genomes

inferredcites →https://doi.org/10.1007/s00439-017-1777-8openalex-snapshot

Y chromosome palindromes and gene conversion

inferredcites →https://doi.org/10.1016/j.ajhg.2015.05.012openalex-snapshot

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

inferredcites →https://doi.org/10.1016/j.ymeth.2017.05.030openalex-snapshot

Toolkit for automated and rapid discovery of structural variants

inferredcites →https://doi.org/10.1016/s0027-5107(02)00076-3openalex-snapshot

Chromosomal aberrations: formation, identification and distribution

inferredcites →https://doi.org/10.1038/243290a0openalex-snapshot

A New Consistent Chromosomal Abnormality in Chronic Myelogenous Leukaemia identified by Quinacrine Fluorescence and Giemsa Staining

inferredcites →https://doi.org/10.1038/70570openalex-snapshot

A general approach to single-nucleotide polymorphism discovery

inferredcites →https://doi.org/10.1038/nature05329openalex-snapshot

Global variation in copy number in the human genome

inferredcites →https://doi.org/10.1038/nature08516openalex-snapshot

Origins and functional impact of copy number variation in the human genome

inferredcites →https://doi.org/10.1038/nature13907openalex-snapshot

Resolving the complexity of the human genome using single-molecule sequencing

inferredcites →https://doi.org/10.1038/nature15393openalex-snapshot

A global reference for human genetic variation

inferredcites →https://doi.org/10.1038/nbt1486openalex-snapshot

Next-generation DNA sequencing

inferredcites →https://doi.org/10.1038/ng.236openalex-snapshot

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

inferredcites →https://doi.org/10.1038/ng.437openalex-snapshot

Personalized copy number and segmental duplication maps using next-generation sequencing

inferredcites →https://doi.org/10.1038/ng1562openalex-snapshot

Fine-scale structural variation of the human genome

inferredcites →https://doi.org/10.1038/ng1696openalex-snapshot

Common deletion polymorphisms in the human genome

inferredcites →https://doi.org/10.1038/ng1862openalex-snapshot

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

inferredcites →https://doi.org/10.1038/nmeth.1374openalex-snapshot

Computational methods for discovering structural variation with next-generation sequencing

inferredcites →https://doi.org/10.1038/nmeth.3454openalex-snapshot

Assembly and diploid architecture of an individual human genome via single-molecule technologies

inferredcites →https://doi.org/10.1038/nmeth.f.256openalex-snapshot

MoDIL: detecting small indels from clone-end sequencing with mixtures of distributions

inferredcites →https://doi.org/10.1038/nrg2958openalex-snapshot

Genome structural variation discovery and genotyping

inferredcites →https://doi.org/10.1038/nrg3933openalex-snapshot

Genetic variation and the de novo assembly of human genomes

inferredcites →https://doi.org/10.1038/s41467-018-08148-zopenalex-snapshot

Multi-platform discovery of haplotype-resolved structural variation in human genomes

inferredcites →https://doi.org/10.1093/bib/bbs017openalex-snapshot

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

inferredcites →https://doi.org/10.1093/bib/bbv028openalex-snapshot

Robust and exact structural variation detection with paired-end and soft-clipped alignments: SoftSV compared with eight algorithms

inferredcites →https://doi.org/10.1093/bioinformatics/btp208openalex-snapshot

A geometric approach for classification and comparison of structural variants

inferredcites →https://doi.org/10.1093/bioinformatics/btp394openalex-snapshot

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

inferredcites →https://doi.org/10.1093/bioinformatics/bts378openalex-snapshot

DELLY: structural variant discovery by integrated paired-end and split-read analysis

inferredcites →https://doi.org/10.1093/bioinformatics/btu828openalex-snapshot

VarSim: a high-fidelity simulation and validation framework for high-throughput genome sequencing with cancer applications

inferredcites →https://doi.org/10.1093/bioinformatics/btv751openalex-snapshot

SV-Bay: structural variant detection in cancer genomes using a Bayesian approach with correction for GC-content and read mappability

inferredcites →https://doi.org/10.1101/193144openalex-snapshot

Multi-platform discovery of haplotype-resolved structural variation in human genomes

inferredcites →https://doi.org/10.1101/gr.114876.110openalex-snapshot

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

inferredcites →https://doi.org/10.1101/gr.115956.110openalex-snapshot

Alu repeat discovery and characterization within human genomes

inferredcites →https://doi.org/10.1101/gr.120501.111openalex-snapshot

Simultaneous structural variation discovery among multiple paired-end sequenced genomes

inferredcites →https://doi.org/10.1101/gr.168450.113openalex-snapshot

Reconstructing complex regions of genomes using long-read sequencing technology

inferredcites →https://doi.org/10.1101/gr.180893.114openalex-snapshot

Single haplotype assembly of the human genome from a hydatidiform mole

inferredcites →https://doi.org/10.1101/gr.214007.116openalex-snapshot

Discovery and genotyping of structural variation from long-read haploid genome sequence data

inferredcites →https://doi.org/10.1101/gr.4565806openalex-snapshot

An initial map of insertion and deletion (INDEL) variation in the human genome

inferredcites →https://doi.org/10.1126/science.1098918openalex-snapshot

Large-Scale Copy Number Polymorphism in the Human Genome

inferredcites →https://doi.org/10.1126/science.1149504openalex-snapshot

Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome

inferredcites →https://doi.org/10.1126/science.1197005openalex-snapshot

Diversity of Human Copy Number Variation and Multicopy Genes

inferredcites →https://doi.org/10.1126/science.aab3761openalex-snapshot

Global diversity, population stratification, and selection of human copy-number variation

inferredcites →https://doi.org/10.1186/gb-2014-15-6-r84openalex-snapshot

LUMPY: a probabilistic framework for structural variant discovery

inferredcites →https://doi.org/10.12688/f1000research.11168.1openalex-snapshot

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data

inferredcites →https://doi.org/10.6084/m9.figshare.963153.v1openalex-snapshot

Aligning sequence reads, clone sequences and assembly con*gs with BWA-MEM

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1101/746172openalex-snapshot

Population Structure, Stratification and Introgression of Human Structural Variation

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