Exome sequencing: dual role as a discovery and diagnostic tool (Q37978583)

26 August 2017

Exome sequencing: dual role as a discovery and diagnostic tool (English)

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26 August 2017

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26 August 2017

Richie Soong

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Constantin Polychronakos

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Constantin Polychronakos

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3

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Chee-Seng Ku

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PubMed ID

22275248

26 August 2017

Mengchu Wu

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22275248

26 August 2017

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1 January 2012

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Targeted capture and massively parallel sequencing of 12 human exomes

26 August 2017

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Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

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Massively parallel sequencing and rare disease

21 January 2018

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Revisiting Mendelian disorders through exome sequencing

21 January 2018

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What can exome sequencing do for you?

21 January 2018

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Exome sequencing: the sweet spot before whole genomes

21 January 2018

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

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

21 January 2018

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

21 January 2018

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Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

21 January 2018

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Methods for genomic partitioning

21 January 2018

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Target-enrichment strategies for next-generation sequencing

21 January 2018

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Sequencing technologies - the next generation

21 January 2018

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A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.

21 January 2018

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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

21 January 2018

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

21 January 2018

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

21 January 2018

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

21 January 2018

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

21 January 2018

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Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

21 January 2018

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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

21 January 2018

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Massively parallel sequencing of ataxia genes after array-based enrichment

21 January 2018

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

21 January 2018

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Targeted next-generation sequencing: microdroplet PCR approach for variant detection in research and clinical samples.

21 January 2018

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Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.

21 January 2018

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An integrated semiconductor device enabling non-optical genome sequencing

21 January 2018

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cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia

21 January 2018

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Finding the missing heritability of complex diseases

21 January 2018

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Common and rare alleles as causes of complex phenotypes

21 January 2018

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Identifying modifier genes of monogenic disease: strategies and difficulties.

21 January 2018

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Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

21 January 2018

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Massively parallel sequencing: the next big thing in genetic medicine

21 January 2018

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Challenges of sequencing human genomes

21 January 2018

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Performance comparison of exome DNA sequencing technologies

21 January 2018

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The $1,000 genome, the $100,000 analysis?

21 January 2018

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Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.22647

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26 August 2017

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PubMed ID

22275248