(Q34360161)

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MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

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scholarly article

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Europe PubMed Central

PubMed publication ID

1 August 2017

MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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1 reference

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1 reference

based on heuristic

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high-throughput sequencing

1 reference

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Graziano Pesole

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Domenico Simone

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Maria Angela Diroma

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Ernesto Picardi

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

Claudia Calabrese

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Mariangela Santorsola

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Cristiano Guttà

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Giuseppe Gasparre

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Marcella Attimonelli

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

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publication date

14 July 2014

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Europe PubMed Central

PubMed publication ID

1 August 2017

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3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

30

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

21

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

3115-3117

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

copyright license

Creative Commons Attribution 3.0 Unported

7 November 2016

1 reference

April 2023 Public Data File from Crossref

copyright status

0 references

Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4201154

6 July 2018

The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4201154

6 July 2018

MitoSeek: extracting mitochondria information and performing high-throughput mitochondria sequencing analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4201154

6 July 2018

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=4201154

6 July 2018

Universal heteroplasmy of human mitochondrial DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4201154

6 July 2018

A "Copernican" reassessment of the human mitochondrial DNA tree from its root

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4201154

6 July 2018

HmtDB, a genomic resource for mitochondrion-based human variability studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4201154

6 July 2018

The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4201154

6 July 2018

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4201154

6 July 2018

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4201154

6 July 2018

An enhanced MITOMAP with a global mtDNA mutational phylogeny

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4201154

6 July 2018

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4201154

6 July 2018

Mitochondrial genomes gleaned from human whole-exome sequencing

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTU483

21 January 2018

mtDNA tree Build 17 (18 Feb 2016)

1 reference

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTU483

21 January 2018

Identifiers

10.1093/BIOINFORMATICS/BTU483

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

DBLP publication ID

journals/bioinformatics/CalabreseSDSGGPPA14

1 reference

DBLP Dataset 2021-01-02

28 January 2021

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25028726%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

ResearchGate publication ID

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