(Q33712073)

28 July 2017

title

Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region (English)

1 reference

high-throughput sequencing

28 July 2017

main subject

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Carlo Rivolta

2

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author name string

Paola Benaglio

series ordinal

1

1 reference

28 July 2017

language of work or name

English

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publication date

29 September 2010

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28 July 2017

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28 July 2017

volume

5

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28 July 2017

issue

9

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28 July 2017

page(s)

e744

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Creative Commons Attribution 4.0 International

28 July 2017

copyright license

start time

29 September 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947511

A scalable, fully automated process for construction of sequence-ready barcoded libraries for 454

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947511

Sequencing technologies - the next generation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947511

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

21 June 2018

1 reference

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Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

21 June 2018

1 reference

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Evaluation of next generation sequencing platforms for population targeted sequencing studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947511

Method for improving sequence coverage uniformity of targeted genomic intervals amplified by LR-PCR using Illumina GA sequencing-by-synthesis technology

21 June 2018

1 reference

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Comparative genomics and molecular dynamics of DNA repeats in eukaryotes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947511

Accurate whole human genome sequencing using reversible terminator chemistry

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947511

SNP frequency estimation using massively parallel sequencing of pooled DNA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947511

Identification of genetic variants using bar-coded multiplexed sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947511

The complete genome of an individual by massively parallel DNA sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947511

Bioinformatics challenges of new sequencing technology

21 June 2018

1 reference

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A pyrosequencing-tailored nucleotide barcode design unveils opportunities for large-scale sample multiplexing

21 June 2018

1 reference

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Targeted high-throughput sequencing of tagged nucleic acid samples

21 June 2018

1 reference

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Accuracy and quality of massively parallel DNA pyrosequencing

21 June 2018

1 reference

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Global variation in copy number in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947511

Genome sequencing in microfabricated high-density picolitre reactors

21 June 2018

1 reference

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Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon: is direct sequencing so reliable?

21 June 2018

1 reference

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DNA sequencing with chain-terminating inhibitors

21 June 2018

1 reference

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Primer-initiated sequence synthesis to detect and assemble structural variants.

21 June 2018

1 reference

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Deep sequencing to reveal new variants in pooled DNA samples

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947511

Rapid whole-genome mutational profiling using next-generation sequencing technologies

30 October 2018

1 reference

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The impact of next-generation sequencing technology on genetics

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947511

10.1371/JOURNAL.PONE.0013071

30 October 2018

Identifiers

DOI

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28 July 2017

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28 July 2017

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