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Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes

Overview of attention for article published in Human Genomics, September 2018
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Title
Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes
Published in
Human Genomics, September 2018
DOI 10.1186/s40246-018-0175-1
Pubmed ID
Authors

Yu Jin, Jingbo Wang, Maulana Bachtiar, Samuel S. Chong, Caroline G. L. Lee

Abstract

Genetic polymorphisms can contribute to phenotypic differences amongst individuals, including disease risk and drug response. Characterization of genetic polymorphisms that modulate gene expression and/or protein function may facilitate the identification of the causal variants. Here, we present the architecture of genetic polymorphisms in the human genome focusing on those predicted to be potentially functional/under natural selection and the pathways that they reside. In the human genome, polymorphisms that directly affect protein sequences and potentially affect function are the most constrained variants with the lowest single-nucleotide variant (SNV) density, least population differentiation and most significant enrichment of rare alleles. SNVs which potentially alter various regulatory sites, e.g. splicing regulatory elements, are also generally under negative selection. Interestingly, genes that regulate the expression of transcription/splicing factors and histones are conserved as a higher proportion of these genes is non-polymorphic, contain ultra-conserved elements (UCEs) and/or has no non-synonymous SNVs (nsSNVs)/coding INDELs. On the other hand, major histocompatibility complex (MHC) genes are the most polymorphic with SNVs potentially affecting the binding of transcription/splicing factors and microRNAs (miRNA) exhibiting recent positive selection (RPS). The drug transporter genes carry the most number of potentially deleterious nsSNVs and exhibit signatures of RPS and/or population differentiation. These observations suggest that genes that interact with the environment are highly polymorphic and targeted by RPS. In conclusion, selective constraints are observed in coding regions, master regulator genes, and potentially functional SNVs. In contrast, genes that modulate response to the environment are highly polymorphic and under positive selection.

Twitter Demographics

The data shown below were collected from the profiles of 4 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 22 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 5 23%
Student > Master 5 23%
Student > Postgraduate 2 9%
Student > Bachelor 2 9%
Researcher 1 5%
Other 3 14%
Unknown 4 18%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 32%
Immunology and Microbiology 4 18%
Medicine and Dentistry 2 9%
Linguistics 1 5%
Computer Science 1 5%
Other 3 14%
Unknown 4 18%

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 September 2018.
All research outputs
#8,653,031
of 13,807,706 outputs
Outputs from Human Genomics
#187
of 268 outputs
Outputs of similar age
#161,658
of 269,230 outputs
Outputs of similar age from Human Genomics
#1
of 1 outputs
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So far Altmetric has tracked 268 research outputs from this source. They receive a mean Attention Score of 4.8. This one is in the 24th percentile – i.e., 24% of its peers scored the same or lower than it.
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