Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations (Q34744001)

4 August 2017

title

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations (English)

1 reference

4 August 2017

0 references

1 reference

Ian J Wilson

8

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Charlotte L Alston

Charlotte L Alston

4

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Helen Griffin

Helen R Griffin

1

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Rita Horvath

Rita Horvath

7

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Angela Pyle

2

Angela Pyle

1 reference

4 August 2017

Mauro Santibanez-Korev

9

Mauro Santibanez-Koref

1 reference

4 August 2017

11

Patrick F Chinnery

1 reference

4 August 2017

3

Emma L Blakely

1 reference

4 August 2017

Robert William Taylor

10

Robert W Taylor

1 reference

4 August 2017

5

Jennifer Duff

1 reference

4 August 2017

6

Gavin Hudson

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4 August 2017

language of work or name

English

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publication date

5 June 2014

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4 August 2017

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4 August 2017

volume

16

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4 August 2017

issue

12

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4 August 2017

page(s)

962-971

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Frequency and pattern of heteroplasmy in the complete human mitochondrial genome.

4 August 2017

cites work

1 reference

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Finding the lost treasures in exome sequencing data

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

The clinical maze of mitochondrial neurology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

Universal heteroplasmy of human mitochondrial DNA.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

Titin mutation segregates with hereditary myopathy with early respiratory failure

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

Next generation sequencing to characterize mitochondrial genomic DNA heteroplasmy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

Second generation sequencing allows for mtDNA mixture deconvolution and high resolution detection of heteroplasmy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

A neurological perspective on mitochondrial disease.

7 July 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

7 July 2018

1 reference

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Fast and accurate long-read alignment with Burrows-Wheeler transform

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

The Sequence Alignment/Map format and SAMtools

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

Fast and accurate short read alignment with Burrows-Wheeler transform

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

Mitochondrial DNA mutations in human colonic crypt stem cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

High fidelity DNA synthesis by the Thermus aquaticus DNA polymerase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.66

Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.66

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.66

Mitochondrial genomes gleaned from human whole-exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.66

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.66

mtDNA tree Build 17 (18 Feb 2016)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.66

HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.66

Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.66

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.66

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.66

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4272251

Mitochondrial DNA and disease

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24901348

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2014.66

1 reference

4 August 2017

1 reference

4 August 2017

1 reference