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Exome sequencing identifies the cause of a mendelian disorder

Nature Genetics

Nov 17, 2009

Sarah B NgMichael J Bamshad

Abstract

We demonstrate the first successful application of exome sequencing to discover the gene for a rare mendelian disorder of unknown cause, Miller syndrome (MIM%263750). For four affected individuals in three independent kindreds, we captured and sequenced coding regions to a mean coverage...read more

Mentioned in this Paper

Chromosome 11p Deletion Syndrome
Genee-Wiedemann Syndrome
Biochemical Pathway
Family Health Status
Oxidoreductases Acting on CH-CH Group Donors
Genetic Analysis
Genetic Screening Method
Dihydroorotate dehydrogenase
Candidate Disease Gene
Homologous Sequences, Amino Acid
7
3
1657
1
3
Paper Details
References
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  • Citations904
123
  • References29
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Proceedings of the National Academy of Sciences of the United States of America

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Exome sequencing identifies the cause of a mendelian disorder

Nature Genetics

Nov 17, 2009

Sarah B NgMichael J Bamshad

PMID: 19915526

DOI: 10.1038/ng.499

Abstract

We demonstrate the first successful application of exome sequencing to discover the gene for a rare mendelian disorder of unknown cause, Miller syndrome (MIM%263750). For four affected individuals in three independent kindreds, we captured and sequenced coding regions to a mean coverage...read more

Mentioned in this Paper

Chromosome 11p Deletion Syndrome
Genee-Wiedemann Syndrome
Biochemical Pathway
Family Health Status
Oxidoreductases Acting on CH-CH Group Donors
Genetic Analysis
Genetic Screening Method
Dihydroorotate dehydrogenase
Candidate Disease Gene
Homologous Sequences, Amino Acid
7
3
1657
1
3

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Myocardial Stunning

Myocardial stunning is a mechanical dysfunction that persists after reperfusion of previously ischemic tissue in the absence of irreversible damage including myocardial necrosis. Here is the latest research.

Related Papers

Proceedings of the National Academy of Sciences of the United States of America

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing(opens in new tab)

Proceedings of the National Academy of Sciences of the United States of AmericaOctober 29, 2009
Murim ChoiRichard P Lifton
Paper Details
References
  • References29
  • Citations904
123
  • References29
  • Citations904
12345...

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