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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes
|
|---|---|
| Published in |
BMC Medical Genomics, December 2016
|
| DOI | 10.1186/s12920-016-0236-z |
| Pubmed ID | |
| Authors |
John K. L. Wong, Desmond Campbell, Ngoc Diem Ngo, Fanny Yeung, Guo Cheng, Clara S. M. Tang, Patrick H. Y. Chung, Ngoc Son Tran, Man-ting So, Stacey S. Cherny, Pak C. Sham, Paul K. Tam, Maria-Mercè Garcia-Barcelo |
| Abstract |
Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians. To our knowledge, no genetic study has ever been conducted. We aim to identify genetic risk factors by a "trio-based" exome-sequencing approach, whereby 31 CDD probands and their unaffected parents were exome-sequenced. Seven-hundred controls from the local population were used to detect gene-sets significantly enriched with rare variants in CDD patients. Twenty-one predicted damaging de novo variants (DNVs; 4 protein truncating and 17 missense) were identified in several evolutionarily constrained genes (p < 0.01). Six genes carrying DNVs were associated with human developmental disorders involving epithelial, connective or bone morphologies (PXDN, RTEL1, ANKRD11, MAP2K1, CYLD, ACAN) and four linked with cholangio- and hepatocellular carcinomas (PIK3CA, TLN1 CYLD, MAP2K1). Importantly, CDD patients have an excess of DNVs in cancer-related genes (p < 0.025). Thirteen genes were recurrently mutated at different sites, forming compound heterozygotes or functionally related complexes within patients. Our data supports a strong genetic basis for CDD and show that CDD is not only genetically heterogeneous but also non-monogenic, requiring mutations in more than one genes for the disease to develop. The data is consistent with the rarity and sporadic presentation of CDD. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| India | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 29 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 5 | 17% |
| Researcher | 5 | 17% |
| Student > Ph. D. Student | 4 | 14% |
| Student > Bachelor | 3 | 10% |
| Student > Master | 3 | 10% |
| Other | 3 | 10% |
| Unknown | 6 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 8 | 28% |
| Medicine and Dentistry | 6 | 21% |
| Neuroscience | 2 | 7% |
| Agricultural and Biological Sciences | 2 | 7% |
| Veterinary Science and Veterinary Medicine | 1 | 3% |
| Other | 2 | 7% |
| Unknown | 8 | 28% |
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 17 December 2016.
All research outputs
#18,493,111
of 22,914,829 outputs
Outputs from BMC Medical Genomics
#864
of 1,226 outputs
Outputs of similar age
#308,024
of 418,945 outputs
Outputs of similar age from BMC Medical Genomics
#8
of 11 outputs
Altmetric has tracked 22,914,829 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,226 research outputs from this source. They receive a mean Attention Score of 4.7. This one is in the 18th percentile – i.e., 18% of its peers scored the same or lower than it.
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We're also able to compare this research output to 11 others from the same source and published within six weeks on either side of this one. This one is in the 18th percentile – i.e., 18% of its contemporaries scored the same or lower than it.