iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data (Q30763394)

15 September 2017

iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data (English)

1 reference

high-throughput sequencing

15 September 2017

1 reference

Takahiro Mimori

1

1 reference

15 September 2017

Naoki Nariai

2

1 reference

15 September 2017

Kaname Kojima

3

1 reference

15 September 2017

Mamoru Takahashi

4

1 reference

15 September 2017

Akira Ono

5

1 reference

15 September 2017

Yukuto Sato

6

1 reference

15 September 2017

Yumi Yamaguchi-Kabata

7

1 reference

15 September 2017

Masao Nagasaki

8

1 reference

15 September 2017

language of work or name

1 reference

13 December 2013

1 reference

15 September 2017

1 reference

15 September 2017

7 Suppl 6

1 reference

15 September 2017

S8

1 reference

https://scigraph.springernature.com/pub.10.1186/1752-0509-7-s6-s8

15 September 2017

0 references

cites work

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

ClipCrop: a tool for detecting structural variations with single-base resolution using soft-clipping information

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

A framework for variation discovery and genotyping using next-generation DNA sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

Mapping copy number variation by population-scale genome sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

Enhanced structural variant and breakpoint detection using SVMerge by integration of multiple detection methods and local assembly

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

BEDTools: a flexible suite of utilities for comparing genomic features

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

Fast and accurate short read alignment with Burrows-Wheeler transform

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

Phenotypes, genotypes and disease susceptibility associated with gene copy number variations: complement C4 CNVs in European American healthy subjects and those with systemic lupus erythematosus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

Disorders of the genome architecture: a review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

Genetic causality in schizophrenia and bipolar disorder: out with the old and in with the new.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

Mapping and sequencing of structural variation from eight human genomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

Genomic copy number variation and its potential role in lipoprotein and metabolic phenotypes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

Global variation in copy number in the human genome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029547

High resolution visual mapping of stretched DNA by fluorescent hybridization

20 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24564972

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genomic drift and evolution of microsatellite DNAs in human populations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24564972

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1752-0509-7-S6-S8

1 reference

journals/bmcsb/MimoriNKTOSYN13

15 September 2017

1 reference

DBLP Dataset 2021-01-02

Dimensions Publication ID

28 January 2021

0 references

1 reference

15 September 2017

1 reference