Survey of variation in human transcription factors reveals prevalent DNA binding changes
Survey of variation in human transcription factors reveals prevalent DNA binding changes is a research paper published in Science (2016). On theSindex it has a DataRank of 4.7. It has been cited 153 times, with 130 citing works in its 1-hop citation network.
Abstract
Sequencing of exomes and genomes has revealed abundant genetic variation affecting the coding sequences of human transcription factors (TFs), but the consequences of such variation remain largely unexplored. We developed a computational, structure-based approach to evaluate TF variants for their impact on DNA binding activity and used universal protein-binding microarrays to assay sequence-specific DNA binding activity across 41 reference and 117 variant alleles found in individuals of diverse ancestries and families with Mendelian diseases. We found 77 variants in 28 genes that affect DNA binding affinity or specificity and identified thousands of rare alleles likely to alter the DNA binding activity of human sequence-specific TFs. Our results suggest that most individuals have unique repertoires of TF DNA binding activities, which may contribute to phenotypic variation.
›Data sources & pipeline
FAIR Checklist
Context only (not used in score)- Has DOI
- Open Access
FAIR checklist signals are shown for context only and do not affect DataRank scoring.
DataRank Breakdown
Base Score Contribution
0.756
From this paper's citation signal
Citation Network Contribution
4.0
From 106 citing papers with measurable signal
Top 5 citers driving the network score
Ranked by citation count — the same ordering the engine uses when summing log1p(Cq) over citers.
- Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple TestingJournal of the Royal Statistical Society Series B: Statistical Methodology1995106,426 citationsDataRank 1.7
- WebLogo: A Sequence Logo Generator: Figure 1Genome Research200412,930 citationsDataRank 1.4
- A map of human genome variation from population-scale sequencingNature20108,067 citationsDataRank 32.4Top 1%
- UniProt: a hub for protein informationNucleic Acids Research20145,274 citationsDataRank 23.2Top 3%
- ClinVar: public archive of relationships among sequence variation and human phenotypeNucleic Acids Research20133,618 citationsDataRank 20.5Top 5%
Why this DataRank?
DataRank blends this paper's own citation count with the influence of the papers that cite it. Here, roughly 16% comes from its base citations and 84% from the citation network (106 citing papers contributed measurable signal).
- Base score B(p)
- log1p(citation_count) — grows sub-linearly, so a paper with 1,000 citations is not 10× a paper with 100.
- Network N(p)
- Σ over citers of log1p(Cq) ÷ max(outdegreeq, 1). Being cited by a highly-cited paper with few references counts most.
- Damping factor d = 0.85
- DataRank = (1−d)·B(p) + d·N(p) — the two cards above are each already multiplied by their share.
- Self-citations excluded
- Citers sharing any OpenAlex author ID with this paper are filtered out before the network sum.
Citers are pulled from OpenAlex sorted by cited_by_count:descand capped per paper, so when the cap binds we keep the highest-signal references and the score is reproducible across reruns.
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