| Title |
Single-locus enrichment without amplification for sequencing and direct detection of epigenetic modifications
|
|---|---|
| Published in |
Molecular Genetics and Genomics, January 2016
|
| DOI | 10.1007/s00438-016-1167-2 |
| Pubmed ID | |
| Authors |
Thang T. Pham, Jun Yin, John S. Eid, Evan Adams, Regina Lam, Stephen W. Turner, Erick W. Loomis, Jun Yi Wang, Paul J. Hagerman, Jeremiah W. Hanes |
| Abstract |
A gene-level targeted enrichment method for direct detection of epigenetic modifications is described. The approach is demonstrated on the CGG-repeat region of the FMR1 gene, for which large repeat expansions, hitherto refractory to sequencing, are known to cause fragile X syndrome. In addition to achieving a single-locus enrichment of nearly 700,000-fold, the elimination of all amplification steps removes PCR-induced bias in the repeat count and preserves the native epigenetic modifications of the DNA. In conjunction with the single-molecule real-time sequencing approach, this enrichment method enables direct readout of the methylation status and the CGG repeat number of the FMR1 allele(s) for a clonally derived cell line. The current method avoids potential biases introduced through chemical modification and/or amplification methods for indirect detection of CpG methylation events. |
X Demographics
The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| France | 1 | 33% |
| Unknown | 2 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Scientists | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 64 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Japan | 1 | 2% |
| France | 1 | 2% |
| Unknown | 62 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 13 | 20% |
| Student > Ph. D. Student | 9 | 14% |
| Student > Bachelor | 7 | 11% |
| Other | 7 | 11% |
| Professor | 6 | 9% |
| Other | 10 | 16% |
| Unknown | 12 | 19% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 23 | 36% |
| Agricultural and Biological Sciences | 14 | 22% |
| Medicine and Dentistry | 7 | 11% |
| Neuroscience | 2 | 3% |
| Computer Science | 1 | 2% |
| Other | 2 | 3% |
| Unknown | 15 | 23% |
Attention Score in Context
This research output has an Altmetric Attention Score of 13. 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 09 May 2019.
All research outputs
#2,655,622
of 25,373,627 outputs
Outputs from Molecular Genetics and Genomics
#34
of 3,318 outputs
Outputs of similar age
#44,841
of 405,212 outputs
Outputs of similar age from Molecular Genetics and Genomics
#1
of 32 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done well and is in the 89th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,318 research outputs from this source. They receive a mean Attention Score of 4.0. This one has done particularly well, scoring higher than 98% of its peers.
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We're also able to compare this research output to 32 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 96% of its contemporaries.