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Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Overview of attention for article published in The HUGO Journal, March 2010
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Title
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
Published in
The HUGO Journal, March 2010
DOI 10.1007/s11568-010-9137-y
Pubmed ID
Authors

Hao Hu, Klaus Wrogemann, Vera Kalscheuer, Andreas Tzschach, Hugues Richard, Stefan A. Haas, Corinna Menzel, Melanie Bienek, Guy Froyen, Martine Raynaud, Hans Van Bokhoven, Jamel Chelly, Hilger Ropers, Wei Chen

Abstract

Massive parallel sequencing has revolutionized the search for pathogenic variants in the human genome, but for routine diagnosis, re-sequencing of the complete human genome in a large cohort of patients is still far too expensive. Recently, novel genome partitioning methods have been developed that allow to target re-sequencing to specific genomic compartments, but practical experience with these methods is still limited. In this study, we have combined a novel droplet-based multiplex PCR method and next generation sequencing to screen patients with X-linked mental retardation (XLMR) for mutations in 86 previously identified XLMR genes. In total, affected males from 24 large XLMR families were analyzed, including three in whom the mutations were already known. Amplicons corresponding to functionally relevant regions of these genes were sequenced on an Illumina/Solexa Genome Analyzer II platform. Highly specific and uniform enrichment was achieved: on average, 67.9% unambiguously mapped reads were derived from amplicons, and for 88.5% of the targeted bases, the sequencing depth was sufficient to reliably detect variations. Potentially disease-causing sequence variants were identified in 10 out of 24 patients, including the three mutations that were already known, and all of these could be confirmed by Sanger sequencing. The robust performance of this approach demonstrates the general utility of droplet-based multiplex PCR for parallel mutation screening in hundreds of genes, which is a prerequisite for the diagnosis of mental retardation and other disorders that may be due to defects of a wide variety of genes.

Twitter Demographics

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Mendeley readers

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Geographical breakdown

Country Count As %
United Kingdom 2 4%
Netherlands 1 2%
United States 1 2%
Canada 1 2%
Unknown 45 90%

Demographic breakdown

Readers by professional status Count As %
Researcher 14 28%
Student > Ph. D. Student 13 26%
Other 5 10%
Student > Bachelor 4 8%
Student > Postgraduate 3 6%
Other 11 22%
Readers by discipline Count As %
Agricultural and Biological Sciences 25 50%
Biochemistry, Genetics and Molecular Biology 10 20%
Engineering 5 10%
Medicine and Dentistry 4 8%
Immunology and Microbiology 1 2%
Other 3 6%
Unknown 2 4%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 19 May 2012.
All research outputs
#2,688,771
of 3,630,112 outputs
Outputs from The HUGO Journal
#6
of 14 outputs
Outputs of similar age
#45,500
of 72,946 outputs
Outputs of similar age from The HUGO Journal
#1
of 1 outputs
Altmetric has tracked 3,630,112 research outputs across all sources so far. This one is in the 25th percentile – i.e., 25% of other outputs scored the same or lower than it.
So far Altmetric has tracked 14 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.7. This one scored the same or higher as 8 of them.
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