(Q37988576)

26 August 2017

title

Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis (English)

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26 August 2017

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Richie Soong

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Yudi Pawitan

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object named as

Yudi Pawitan

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26 August 2017

Chee-Seng Ku

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26 August 2017

Mengchu Wu

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26 August 2017

Brendan Pang

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26 August 2017

Barry Iacopetta

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26 August 2017

language of work or name

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1 March 2012

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Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

26 August 2017

published in

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26 August 2017

volume

12

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26 August 2017

issue

2

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26 August 2017

page(s)

159-173

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Sequencing technologies - the next generation

26 August 2017

cites work

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A decade's perspective on DNA sequencing technology

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Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia

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Performance comparison of exome DNA sequencing technologies

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Targeted capture and massively parallel sequencing of 12 human exomes

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Exome sequencing identifies the cause of a mendelian disorder

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Methods for genomic partitioning

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Target-enrichment strategies for next-generation sequencing

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Novel genomic techniques open new avenues in the analysis of monogenic disorders

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Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

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Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

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Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer

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Massively parallel sequencing of ataxia genes after array-based enrichment

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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

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B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

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Microdroplet-based PCR enrichment for large-scale targeted sequencing

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Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

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Hereditary and familial colon cancer

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Advances in Alport syndrome diagnosis using next-generation sequencing

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An integrated semiconductor device enabling non-optical genome sequencing

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Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

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Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

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Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

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Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.

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Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.

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Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

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Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

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Microarray-based genomic selection for high-throughput resequencing.

21 January 2018

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Direct selection of human genomic loci by microarray hybridization

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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

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Targeted enrichment of genomic DNA regions for next-generation sequencing

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Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

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Next-generation DNA sequencing

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Computational methods for discovering structural variation with next-generation sequencing

21 January 2018

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Detecting copy number variation with mated short reads

21 January 2018

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Advances in understanding cancer genomes through second-generation sequencing

21 January 2018

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Application of second-generation sequencing to cancer genomics

21 January 2018

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Somatic mutations affect key pathways in lung adenocarcinoma

21 January 2018

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Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

21 January 2018

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The mutation spectrum revealed by paired genome sequences from a lung cancer patient

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21 January 2018

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The real cost of sequencing: higher than you think!

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Faster human genome sequencing

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Downsizing genomic medicine: approaching the ethical complexity of whole-genome sequencing by starting small

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21 January 2018

Identifiers

DOI

10.1586/ERM.11.95

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26 August 2017

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