(Q64999760)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31159850%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

title

Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31159850%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

main subject

whole genome sequencing

1 reference

Shunichi Kosugi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31159850%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Yukihide Momozawa

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31159850%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Xiaoxi Liu

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31159850%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Chikashi Terao

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31159850%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

publication date

3 June 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31159850%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31159850%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31159850%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31159850%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

page(s)

117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31159850%20AND%20SRC:MED&resulttype=core&format=json

Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes

30 April 2020

cites work

1 reference

12 December 2020

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

12 December 2020

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

1 reference

12 December 2020

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

1 reference

12 December 2020

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

1 reference

12 December 2020

Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

1 reference

12 December 2020

Structural variation in the human genome and its role in disease

1 reference

12 December 2020

Characterization of missing human genome sequences and copy-number polymorphic insertions

1 reference

12 December 2020

Towards a comprehensive structural variation map of an individual human genome

1 reference

12 December 2020

Mapping copy number variation by population-scale genome sequencing

1 reference

12 December 2020

ReadDepth: a parallel R package for detecting copy number alterations from short sequencing reads

1 reference

12 December 2020

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

1 reference

12 December 2020

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

1 reference

12 December 2020

Genome structural variation discovery and genotyping

1 reference

12 December 2020

CREST maps somatic structural variation in cancer genomes with base-pair resolution.

1 reference

12 December 2020

inGAP-sv: a novel scheme to identify and visualize structural variation from paired end mapping data

1 reference

12 December 2020

Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data

1 reference

12 December 2020

ART: a next-generation sequencing read simulator.

1 reference

12 December 2020

An integrative probabilistic model for identification of structural variation in sequencing data

1 reference

12 December 2020

An improved approach for accurate and efficient calling of structural variations with low-coverage sequence data

1 reference

12 December 2020

forestSV: structural variant discovery through statistical learning

1 reference

12 December 2020

PRISM: pair-read informed split-read mapping for base-pair level detection of insertion, deletion and structural variants

1 reference

12 December 2020

Using ERDS to infer copy-number variants in high-coverage genomes

1 reference

12 December 2020

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

1 reference

12 December 2020

Mapping single molecule sequencing reads using basic local alignment with successive refinement (BLASR): application and theory

1 reference

12 December 2020

CLEVER: clique-enumerating variant finder

1 reference

12 December 2020

PBSIM: PacBio reads simulator--toward accurate genome assembly

1 reference

12 December 2020

Current analysis platforms and methods for detecting copy number variation

1 reference

12 December 2020

Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing

1 reference

12 December 2020

Phenotypic impact of genomic structural variation: insights from and for human disease

1 reference

12 December 2020

A survey of tools for variant analysis of next-generation genome sequencing data

1 reference

12 December 2020

Diverse mechanisms of somatic structural variations in human cancer genomes

1 reference

12 December 2020

OncoSNP-SEQ: a statistical approach for the identification of somatic copy number alterations from next-generation sequencing of cancer genomes

1 reference

12 December 2020

Primate genome architecture influences structural variation mechanisms and functional consequences

1 reference

12 December 2020

SoftSearch: integration of multiple sequence features to identify breakpoints of structural variations

1 reference

12 December 2020

MOSAIK: a hash-based algorithm for accurate next-generation sequencing short-read mapping

1 reference

12 December 2020

PBHoney: identifying genomic variants via long-read discordance and interrupted mapping

1 reference

12 December 2020

LUMPY: a probabilistic framework for structural variant discovery.

1 reference

12 December 2020

Whole-genome sequence variation, population structure and demographic history of the Dutch population

1 reference

12 December 2020

Genomic evolution of Saccharomyces cerevisiae under Chinese rice wine fermentation

1 reference

12 December 2020

Tangram: a comprehensive toolbox for mobile element insertion detection

1 reference

12 December 2020

Mobster: accurate detection of mobile element insertions in next generation sequencing data

1 reference

12 December 2020

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

1 reference

12 December 2020

Making the difference: integrating structural variation detection tools

1 reference

12 December 2020

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

1 reference

12 December 2020

Methods for the detection and assembly of novel sequence in high-throughput sequencing data

1 reference

12 December 2020

RAPTR-SV: a hybrid method for the detection of structural variants

1 reference

12 December 2020

Structural variation discovery in the cancer genome using next generation sequencing: computational solutions and perspectives

1 reference

12 December 2020

MetaSV: an accurate and integrative structural-variant caller for next generation sequencing

1 reference

12 December 2020

Allele-specific copy-number discovery from whole-genome and whole-exome sequencing

1 reference

12 December 2020

Characteristics of de novo structural changes in the human genome

1 reference

12 December 2020

Whole-genome CNV analysis: advances in computational approaches

1 reference

12 December 2020

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

1 reference

12 December 2020

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

1 reference

12 December 2020

BreakSeek: a breakpoint-based algorithm for full spectral range INDEL detection

1 reference

12 December 2020

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

1 reference

12 December 2020

FermiKit: assembly-based variant calling for Illumina resequencing data

1 reference

12 December 2020

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

1 reference

12 December 2020

Local sequence assembly reveals a high-resolution profile of somatic structural variations in 97 cancer genomes

1 reference

12 December 2020

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

1 reference

12 December 2020

An integrated map of structural variation in 2,504 human genomes

1 reference

12 December 2020

Wham: Identifying Structural Variants of Biological Consequence

1 reference

12 December 2020

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.

1 reference

12 December 2020

svclassify: a method to establish benchmark structural variant calls

1 reference

12 December 2020

Structural variation detection using next-generation sequencing data: A comparative technical review.

1 reference

12 December 2020

Frequency and Complexity of De Novo Structural Mutation in Autism

1 reference

12 December 2020

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

1 reference

12 December 2020

Copy number analysis of whole-genome data using BIC-seq2 and its application to detection of cancer susceptibility variants

1 reference

12 December 2020

Extensive sequencing of seven human genomes to characterize benchmark reference materials

1 reference

12 December 2020

Benchmarking computational tools for polymorphic transposable element detection

1 reference

12 December 2020

Human adaptation and evolution by segmental duplication

1 reference

12 December 2020

De novo assembly and phasing of a Korean human genome.

1 reference

12 December 2020

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

1 reference

12 December 2020

The Mobile Element Locator Tool (MELT): Population-scale mobile element discovery and biology

1 reference

12 December 2020

Discovery and genotyping of novel sequence insertions in many sequenced individuals

1 reference

12 December 2020

GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly.

1 reference

12 December 2020

SvABA: genome-wide detection of structural variants and indels by local assembly.

1 reference

12 December 2020

iCopyDAV: Integrated platform for copy number variations-Detection, annotation and visualization.

1 reference

12 December 2020

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

1 reference

12 December 2020

Accurate detection of complex structural variations using single-molecule sequencing

1 reference

12 December 2020

npInv: accurate detection and genotyping of inversions using long read sub-alignment

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1186/S13059-019-1720-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31159850%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31159850%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

PubMed publication ID

31159850

1 reference