Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. (Q51733753)

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25 January 2020

title

Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques (English)

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25 January 2020

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25 January 2020

Anna Rohlin

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25 January 2020

Josephine Wernersson

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25 January 2020

Yvonne Engwall

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25 January 2020

Leif Wiklund

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25 January 2020

Jan Björk

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25 January 2020

publication date

1 June 2009

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25 January 2020

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25 January 2020

volume

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25 January 2020

issue

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25 January 2020

page(s)

1012-1020

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Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2.

25 January 2020

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Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

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The use of coded PCR primers enables high-throughput sequencing of multiple homolog amplification products by 454 parallel sequencing

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5′-Tailed sequencing primers improve sequencing quality of PCR products

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Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer

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Multigene amplification and massively parallel sequencing for cancer mutation discovery

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Digital quantification of mutant DNA in cancer patients.

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Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.

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7 January 2021

Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?

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7 January 2021

Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification

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7 January 2021

Somatic mosaicism and variable expressivity

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7 January 2021

A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC

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Somatic APC mosaicism: an underestimated cause of polyposis coli.

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Low level mosaicism detectable by DHPLC but not by direct sequencing

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7 January 2021

Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families

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7 January 2021

Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?

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7 January 2021

DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations

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7 January 2021

Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas

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7 January 2021

Next-generation DNA sequencing methods

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7 January 2021

Genome sequencing in microfabricated high-density picolitre reactors

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7 January 2021

Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

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7 January 2021

Somatic mosaicism in von Hippel-Lindau Disease

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7 January 2021

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

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7 January 2021

Mosaicism in von Hippel-Lindau disease: an event important to recognize

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7 January 2021

Gonadal mosaicism and familial adenomatous polyposis

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7 January 2021

Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents

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7 January 2021

Accurate multiplex polony sequencing of an evolved bacterial genome

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7 January 2021

Next-generation DNA sequencing

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7 January 2021

Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification

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7 January 2021

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

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7 January 2021

Keeping up with the next generation: massively parallel sequencing in clinical diagnostics

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7 January 2021

Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing

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7 January 2021

High rate of mosaicism in tuberous sclerosis complex

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7 January 2021

Mechanisms and consequences of somatic mosaicism in humans

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7 January 2021

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7 January 2021

Penetrance and expressivity in the molecular age

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20980

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19347965%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

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