标题
Structural variation in the sequencing era
作者
关键词
-
出版物
NATURE REVIEWS GENETICS
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-11-15
DOI
10.1038/s41576-019-0180-9
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- SVIM: Structural Variant Identification using Mapped Long Reads
- (2019) David Heller et al. BIOINFORMATICS
- Characterizing the Major Structural Variant Alleles of the Human Genome
- (2019) Peter A. Audano et al. CELL
- Chromatin features constrain structural variation across evolutionary timescales
- (2019) Geoff Fudenberg et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Clinical application of single-molecule optical mapping to a multigeneration FSHD1 pedigree
- (2019) Qian Zhang et al. Molecular Genetics & Genomic Medicine
- Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements
- (2019) Jesper Eisfeldt et al. PLoS Genetics
- TSD: A Computational Tool To Study the Complex Structural Variants Using PacBio Targeted Sequencing Data
- (2019) Guofeng Meng et al. G3-Genes Genomes Genetics
- Genome maps across 26 human populations reveal population-specific patterns of structural variation
- (2019) Michal Levy-Sakin et al. Nature Communications
- Linked-read Sequencing Analysis Reveals Tumor-specific Genome Variation Landscapes in Neurofibromatosis Type 2 (NF2) Patients
- (2019) Daniel S. Roberts et al. OTOLOGY & NEUROTOLOGY
- Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2
- (2019) Bo Zhou et al. NUCLEIC ACIDS RESEARCH
- A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing
- (2019) Takeshi Mizuguchi et al. JOURNAL OF HUMAN GENETICS
- Resolving the full spectrum of human genome variation using Linked-Reads
- (2019) Patrick Marks et al. GENOME RESEARCH
- Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562
- (2019) Bo Zhou et al. GENOME RESEARCH
- Long-read single-molecule maps of the functional methylome
- (2019) Hila Sharim et al. GENOME RESEARCH
- Genomic Analysis in the Age of Human Genome Sequencing
- (2019) Tuuli Lappalainen et al. CELL
- Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders
- (2019) Patrick F. Sullivan et al. CELL
- Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2
- (2019) Christine R. Beck et al. CELL
- rMETL: sensitive mobile element insertion detection with long read realignment
- (2019) Tao Jiang et al. BIOINFORMATICS
- Structural variant analysis for linked-read sequencing data with gemtools
- (2019) S U Greer et al. BIOINFORMATICS
- Hi-C detects novel structural variants in HL-60 and HL-60/S4 cell lines
- (2019) Elsie C. Jacobson et al. GENOMICS
- svtools: population-scale analysis of structural variation
- (2019) David E Larson et al. BIOINFORMATICS
- Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
- (2019) Wouter De Coster et al. GENOME RESEARCH
- A machine-learning approach for accurate detection of copy number variants from exome sequencing
- (2019) Vijay Kumar Pounraja et al. GENOME RESEARCH
- Multi-platform discovery of haplotype-resolved structural variation in human genomes
- (2019) Mark J. P. Chaisson et al. Nature Communications
- High-coverage, long-read sequencing of Han Chinese trio reference samples
- (2019) Ying-Chih Wang et al. Scientific Data
- The 22q11 low copy repeats are characterized by unprecedented size and structural variability
- (2019) Wolfram Demaerel et al. GENOME RESEARCH
- Legacy Data Confound Genomics Studies
- (2019) Luke Anderson-Trocmé et al. MOLECULAR BIOLOGY AND EVOLUTION
- NextSV: a meta-caller for structural variants from low-coverage long-read sequencing data
- (2018) Li Fang et al. BMC BIOINFORMATICS
- npInv: accurate detection and genotyping of inversions using long read sub-alignment
- (2018) Haojing Shao et al. BMC BIOINFORMATICS
- Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
- (2018) Tatsiana Aneichyk et al. CELL
- Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer
- (2018) David A. Quigley et al. CELL
- Structural Alterations Driving Castration-Resistant Prostate Cancer Revealed by Linked-Read Genome Sequencing
- (2018) Srinivas R. Viswanathan et al. CELL
- Optical mapping reveals a higher level of genomic architecture of chained fusions in cancer
- (2018) Eva K.F. Chan et al. GENOME RESEARCH
- Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line
- (2018) Maria Nattestad et al. GENOME RESEARCH
- Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing
- (2018) Usha R. Dutta et al. GENOMICS
- Nanopore sequencing and assembly of a human genome with ultra-long reads
- (2018) Miten Jain et al. NATURE BIOTECHNOLOGY
- An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
- (2018) Donna M. Werling et al. NATURE GENETICS
- Picky comprehensively detects high-resolution structural variants in nanopore long reads
- (2018) Liang Gong et al. NATURE METHODS
- Accurate detection of complex structural variations using single-molecule sequencing
- (2018) Fritz J. Sedlazeck et al. NATURE METHODS
- Structural variation in the 3D genome
- (2018) Malte Spielmann et al. NATURE REVIEWS GENETICS
- Piercing the dark matter: bioinformatics of long-range sequencing and mapping
- (2018) Fritz J. Sedlazeck et al. NATURE REVIEWS GENETICS
- Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family
- (2018) Stuart Cantsilieris et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- High-resolution comparative analysis of great ape genomes
- (2018) Zev N. Kronenberg et al. SCIENCE
- Paternally inherited cis-regulatory structural variants are associated with autism
- (2018) William M. Brandler et al. SCIENCE
- Genome-Wide Analysis of Interchromosomal Interaction Probabilities Reveals Chained Translocations and Overrepresentation of Translocation Breakpoints in Genes in a Cutaneous T-Cell Lymphoma Cell Line
- (2018) Anne Steininger et al. Frontiers in Oncology
- The clinical implementation of copy number detection in the age of next-generation sequencing
- (2018) Jayne Y. Hehir-Kwa et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis
- (2018) Bo Zhou et al. JOURNAL OF MEDICAL GENETICS
- Integrative detection and analysis of structural variation in cancer genomes
- (2018) Jesse R. Dixon et al. NATURE GENETICS
- De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations
- (2018) Karen H. Y. Wong et al. Nature Communications
- Statistical Binning for Barcoded Reads Improves Downstream Analyses
- (2018) Ariya Shajii et al. Cell Systems
- Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis
- (2018) Hefan Miao et al. HEREDITAS
- Detection and visualization of complex structural variants from long reads
- (2018) Zachary Stephens et al. BMC BIOINFORMATICS
- Targeted genotyping of variable number tandem repeats with adVNTR
- (2018) Mehrdad Bakhtiari et al. GENOME RESEARCH
- Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases
- (2018) Takeshi Mizuguchi et al. JOURNAL OF HUMAN GENETICS
- Assembly of a pan-genome from deep sequencing of 910 humans of African descent
- (2018) Rachel M. Sherman et al. NATURE GENETICS
- Long-read sequence and assembly of segmental duplications
- (2018) Mitchell R. Vollger et al. NATURE METHODS
- Chromatin conformation analysis of primary patient tissue using a low input Hi-C method
- (2018) Noelia Díaz et al. Nature Communications
- Local and global chromatin interactions are altered by large genomic deletions associated with human brain development
- (2018) Xianglong Zhang et al. Nature Communications
- De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data
- (2018) Adam Ameur et al. Genes
- Extensive and deep sequencing of the Venter/HuRef genome for developing and benchmarking genome analysis tools
- (2018) Bo Zhou et al. Scientific Data
- Long-read genome sequencing identifies causal structural variation in a Mendelian disease
- (2017) Jason D Merker et al. GENETICS IN MEDICINE
- HySA: a Hybrid Structural variant Assembly approach using next-generation and single-molecule sequencing technologies
- (2017) Xian Fan et al. GENOME RESEARCH
- Direct determination of diploid genome sequences
- (2017) Neil I. Weisenfeld et al. GENOME RESEARCH
- Nucleome Analysis Reveals Structure–Function Relationships for Colon Cancer
- (2017) Laura Seaman et al. MOLECULAR CANCER RESEARCH
- The impact of structural variation on human gene expression
- (2017) Colby Chiang et al. NATURE GENETICS
- Genome-wide reconstruction of complex structural variants using read clouds
- (2017) Noah Spies et al. NATURE METHODS
- Single-cell template strand sequencing by Strand-seq enables the characterization of individual homologs
- (2017) Ashley D Sanders et al. Nature Protocols
- Identification of large rearrangements in cancer genomes with barcode linked reads
- (2017) Li C Xia et al. NUCLEIC ACIDS RESEARCH
- A survey of localized sequence rearrangements in human DNA
- (2017) Martin C Frith et al. NUCLEIC ACIDS RESEARCH
- Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast
- (2017) Daniel C. Jeffares et al. Nature Communications
- Mapping and phasing of structural variation in patient genomes using nanopore sequencing
- (2017) Mircea Cretu Stancu et al. Nature Communications
- Next generation mapping reveals novel large genomic rearrangements in prostate cancer
- (2017) Weerachai Jaratlerdsiri et al. Oncotarget
- Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing
- (2017) Qian Liu et al. Genome Medicine
- Linked read sequencing resolves complex genomic rearrangements in gastric cancer metastases
- (2017) Stephanie U. Greer et al. Genome Medicine
- Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
- (2016) Tychele N. Turner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- svclassify: a method to establish benchmark structural variant calls
- (2016) Hemang Parikh et al. BMC GENOMICS
- Nanopore sequencing detects structural variants in cancer
- (2016) Alexis L. Norris et al. CANCER BIOLOGY & THERAPY
- An Incomplete Understanding of Human Genetic Variation
- (2016) J. Huddleston et al. GENETICS
- Characterizing polymorphic inversions in human genomes by single-cell sequencing
- (2016) Ashley D. Sanders et al. GENOME RESEARCH
- Discovery and genotyping of structural variation from long-read haploid genome sequence data
- (2016) John Huddleston et al. GENOME RESEARCH
- Structural variation detection using next-generation sequencing data
- (2016) Peiyong Guan et al. METHODS
- De novo assembly and phasing of a Korean human genome
- (2016) Jeong-Sun Seo et al. NATURE
- Formation of new chromatin domains determines pathogenicity of genomic duplications
- (2016) Martin Franke et al. NATURE
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Haplotyping germline and cancer genomes with high-throughput linked-read sequencing
- (2016) Grace X Y Zheng et al. NATURE BIOTECHNOLOGY
- Pan-cancer analysis of somatic copy-number alterations implicates IRS4 and IGF2 in enhancer hijacking
- (2016) Joachim Weischenfeldt et al. NATURE GENETICS
- Mechanisms underlying structural variant formation in genomic disorders
- (2016) Claudia M. B. Carvalho et al. NATURE REVIEWS GENETICS
- Coming of age: ten years of next-generation sequencing technologies
- (2016) Sara Goodwin et al. NATURE REVIEWS GENETICS
- Deep sequencing of 10,000 human genomes
- (2016) Amalio Telenti et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Sequencing Structural Variants in Cancer for Precision Therapeutics
- (2016) Geoff Macintyre et al. TRENDS IN GENETICS
- A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
- (2016) Jayne Y. Hehir-Kwa et al. Nature Communications
- Long-read sequencing and de novo assembly of a Chinese genome
- (2016) Lingling Shi et al. Nature Communications
- Extensive sequencing of seven human genomes to characterize benchmark reference materials
- (2016) Justin M. Zook et al. Scientific Data
- Genome-wide characteristics of de novo mutations in autism
- (2016) Ryan KC Yuen et al. npj Genomic Medicine
- Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation
- (2015) Harrison Brand et al. AMERICAN JOURNAL OF HUMAN GENETICS
- MetaSV: an accurate and integrative structural-variant caller for next generation sequencing
- (2015) Marghoob Mohiyuddin et al. BIOINFORMATICS
- Assessing structural variation in a personal genome—towards a human reference diploid genome
- (2015) Adam C English et al. BMC GENOMICS
- Exome sequencing and whole genome sequencing for the detection of copy number variation
- (2015) Jayne Y Hehir-Kwa et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays
- (2015) A. C. Y. Mak et al. GENETICS
- Read clouds uncover variation in complex regions of the human genome
- (2015) Alex Bishara et al. GENOME RESEARCH
- Characteristics of de novo structural changes in the human genome
- (2015) Wigard P. Kloosterman et al. GENOME RESEARCH
- An integrated map of structural variation in 2,504 human genomes
- (2015) Peter H. Sudmant et al. NATURE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- SpeedSeq: ultra-fast personal genome analysis and interpretation
- (2015) Colby Chiang et al. NATURE METHODS
- Assembly and diploid architecture of an individual human genome via single-molecule technologies
- (2015) Matthew Pendleton et al. NATURE METHODS
- Global diversity, population stratification, and selection of human copy-number variation
- (2015) Peter H. Sudmant et al. SCIENCE
- Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
- (2015) Masao Nagasaki et al. Nature Communications
- PacBio Sequencing and Its Applications
- (2015) Anthony Rhoads et al. GENOMICS PROTEOMICS & BIOINFORMATICS
- Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology
- (2015) Hongzhi Cao et al. GigaScience
- Characterization of structural variants with single molecule and hybrid sequencing approaches
- (2014) Anna Ritz et al. BIOINFORMATICS
- Resolving complex tandem repeats with long reads
- (2014) Ajay Ummat et al. BIOINFORMATICS
- PBHoney: identifying genomic variants via long-read discordance and interrupted mapping
- (2014) Adam C English et al. BMC BIOINFORMATICS
- An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data
- (2014) Renjie Tan et al. HUMAN MUTATION
- Resolving the complexity of the human genome using single-molecule sequencing
- (2014) Mark J. P. Chaisson et al. NATURE
- Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
- (2014) Justin M Zook et al. NATURE BIOTECHNOLOGY
- LUMPY: a probabilistic framework for structural variant discovery
- (2014) Ryan M Layer et al. GENOME BIOLOGY
- iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data
- (2013) Takahiro Mimori et al. BMC Systems Biology
- Transcriptome and genome sequencing uncovers functional variation in humans
- (2013) Tuuli Lappalainen et al. NATURE
- Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions
- (2013) Joshua N Burton et al. NATURE BIOTECHNOLOGY
- Phenotypic impact of genomic structural variation: insights from and for human disease
- (2013) Joachim Weischenfeldt et al. NATURE REVIEWS GENETICS
- Structural Variation-Associated Expression Changes Are Paralleled by Chromatin Architecture Modifications
- (2013) Nele Gheldof et al. PLoS One
- BAIT: Organizing genomes and mapping rearrangements in single cells
- (2013) Mark Hills et al. Genome Medicine
- Dissect: detection and characterization of novel structural alterations in transcribed sequences
- (2012) D. Yorukoglu et al. BIOINFORMATICS
- Genomic dark matter: the reliability of short read mapping illustrated by the genome mappability score
- (2012) Hayan Lee et al. BIOINFORMATICS
- DELLY: structural variant discovery by integrated paired-end and split-read analysis
- (2012) T. Rausch et al. BIOINFORMATICS
- nFuse: Discovery of complex genomic rearrangements in cancer using high-throughput sequencing
- (2012) A. McPherson et al. GENOME RESEARCH
- Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly
- (2012) Ernest T Lam et al. NATURE BIOTECHNOLOGY
- Detecting and annotating genetic variations using the HugeSeq pipeline
- (2012) Hugo Y K Lam et al. NATURE BIOTECHNOLOGY
- DNA template strand sequencing of single-cells maps genomic rearrangements at high resolution
- (2012) Ester Falconer et al. NATURE METHODS
- forestSV: structural variant discovery through statistical learning
- (2012) Jacob J Michaelson et al. NATURE METHODS
- dbVar and DGVa: public archives for genomic structural variation
- (2012) Ilkka Lappalainen et al. NUCLEIC ACIDS RESEARCH
- An integrative probabilistic model for identification of structural variation in sequencing data
- (2012) Suzanne S Sindi et al. GENOME BIOLOGY
- CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
- (2011) A. Abyzov et al. GENOME RESEARCH
- Mapping copy number variation by population-scale genome sequencing
- (2011) Ryan E. Mills et al. NATURE
- Discovery and genotyping of genome structural polymorphism by sequencing on a population scale
- (2011) Robert E Handsaker et al. NATURE GENETICS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Repetitive DNA and next-generation sequencing: computational challenges and solutions
- (2011) Todd J. Treangen et al. NATURE REVIEWS GENETICS
- Genome structural variation discovery and genotyping
- (2011) Can Alkan et al. NATURE REVIEWS GENETICS
- Characterizing complex structural variation in germline and somatic genomes
- (2011) Aaron R. Quinlan et al. TRENDS IN GENETICS
- deFuse: An Algorithm for Gene Fusion Discovery in Tumor RNA-Seq Data
- (2011) Andrew McPherson et al. PLoS Computational Biology
- Enhanced structural variant and breakpoint detection using SVMerge by integration of multiple detection methods and local assembly
- (2011) Kim Wong et al. GENOME BIOLOGY
- Detection and characterization of novel sequence insertions using paired-end next-generation sequencing
- (2010) Iman Hajirasouliha et al. BIOINFORMATICS
- Haplotype-resolved genome sequencing of a Gujarati Indian individual
- (2010) Jacob O Kitzman et al. NATURE BIOTECHNOLOGY
- Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing
- (2010) Hansoo Park et al. NATURE GENETICS
- High-resolution human genome structure by single-molecule analysis
- (2010) B. Teague et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Diversity of Human Copy Number Variation and Multicopy Genes
- (2010) Peter H. Sudmant et al. SCIENCE
- Towards a comprehensive structural variation map of an individual human genome
- (2010) Andy W Pang et al. GENOME BIOLOGY
- Sensitive and accurate detection of copy number variants using read depth of coverage
- (2009) S. Yoon et al. GENOME RESEARCH
- Origins and functional impact of copy number variation in the human genome
- (2009) Donald F. Conrad et al. NATURE
- Computational methods for discovering structural variation with next-generation sequencing
- (2009) Paul Medvedev et al. NATURE METHODS
- BreakDancer: an algorithm for high-resolution mapping of genomic structural variation
- (2009) Ken Chen et al. NATURE METHODS
- Continuous base identification for single-molecule nanopore DNA sequencing
- (2009) James Clarke et al. Nature Nanotechnology
- Mechanisms of change in gene copy number
- (2009) P. J. Hastings et al. NATURE REVIEWS GENETICS
- Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome
- (2009) E. Lieberman-Aiden et al. SCIENCE
- PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data
- (2009) Jan O Korbel et al. GENOME BIOLOGY
- Structural Variation of Chromosomes in Autism Spectrum Disorder
- (2008) Christian R. Marshall et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mapping and sequencing of structural variation from eight human genomes
- (2008) Jeffrey M. Kidd et al. NATURE
- Integrated detection and population-genetic analysis of SNPs and copy number variation
- (2008) Steven A McCarroll et al. NATURE GENETICS
- Real-Time DNA Sequencing from Single Polymerase Molecules
- (2008) J. Eid et al. SCIENCE
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