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Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.005Source: DataRank Database

Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA is a research paper published in The American Journal of Human Genetics (2023). On theSindex it has a DataRank of 0. It has been cited 12 times.

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Open Access12 citations

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Enrichment:Funding (2 grants)Impact (FWCI 1.10)OA: hybridTopics (50)IDs (PubMed, OpenAlex)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

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Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (14)

Zhentian Kai ORCID,Dan Murphy ORCID,Dongyang Li ORCID,Dilip Patel,Adrianna Bielowka ORCID

Live enrichment

PubMed:37816352 OpenAlex:https://openalex.org/W4387453535

National Institutes of Health

Grant: R35HL140019

National Institutes of Health

Grant: 5R35HL140019-06

Genomics of Pulmonary Vascular Disease

FWCI

1.10

Citation Percentile

0.8%

Citation Trend

2023

2024

2025

hybridLicense: cc-by-nc-nd

journalhttp://www.cell.com/article/S000292972300318X/pdf

publisherhttp://www.cell.com/article/S000292972300318X/pdf

publisherhttps://api.elsevier.com/content/article/PII:S000292972300318X?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S000292972300318X?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.ajhg.2023.09.005

Fields of Study

Cancer-related gene regulationRNA modifications and cancerMetalloenzymes and iron-sulfur proteins03 medical and health sciences0303 health sciences

MeSH Terms

Whole Genome SequencingBase SequenceDNAHumansLeukocytes, MononuclearNucleotidesRNATelangiectasia, Hereditary HemorrhagicPolyadenylationSmad4 Protein

Keywords

BiologyGeneticsPolyadenylationCoding regionUntranslated regionGeneGenomeComputational biologyRNA570Supplementary Data610CPA siteR MedicineCleavage and polyadenylation siteArticleHumansCycloheximideNational Institute for Health Research (NIHR)Smad4 ProteinCombined annotation-dependant depletion scoreAlternate exon useBase SequenceWhole Genome SequencingNucleotidesRRare variantDNACADD scoreHereditary hemorrhagic telangiectasiaPeripheral blood mononuclear cellsPBMCsLeukocytes, MononuclearTelangiectasia, Hereditary Hemorrhagic3′ untranslated region

Sustainable Development Goals

SDG 0: Good health and well-being