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Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies

Genetics in Medicine(2022)10.1016/j.gim.2022.12.002Source: DataRank Database

Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies is a research paper published in Genetics in Medicine (2022). On theSindex it has a DataRank of 0. It has been cited 19 times.

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (9 grants)OA: greenTopics (12)IDs (PubMed)SDGs (1)

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Authors (19)

Luca Sala ORCID,Isabelle Denjoy ORCID,Yuko Wada ORCID,Krystian A. Kozek ORCID,Lia Crotti ORCID

Live enrichment

PubMed:26207759

Fondazione Cariplo

Grant: 2019-1691

Fondation Leducq

Grant: 18CVD05

National Institutes of Health

Grant: R01HL160863

National Institutes of Health

Grant: 848898

National Institutes of Health

Grant: F30HL163923-01

H2020 Marie Skłodowska-Curie Actions

Grant: 795209

PREcision MEDicine with induced pluripotent stem cells for Cardiac Arrhythmias Risk Evaluation

H2020 Marie Skłodowska-Curie Actions

Grant: H2020-MSCA-IF-2017

American Heart Association Inc

Grant: 907581

National Institutes of Health

Grant: 5R01HL160863-04

Integrating KCNH2 Variant-Specific Features and Heterozygote Phenotypes to Estimate Long QT Penetrance

greenLicense: Elsevier Non-Commercial

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/9992222

publisherhttps://api.elsevier.com/content/article/PII:S1098360022010607?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1098360022010607?httpAccept=text/plain

https://doi.org/10.1101/2022.07.07.22277385

https://doi.org/10.1016/j.gim.2022.12.002

Fields of Study

0301 basic medicine03 medical and health sciences0302 clinical medicine

Keywords

[SDV] Life Sciences [q-bio]Channelopathy; Incomplete Penetrance; Long QT Syndrome; Personalized Medicine; Statistical Genetics;KCNQ1 Potassium ChannelMutationHumansPenetranceBayes TheoremChannelopathiesArrhythmias, Cardiac

Sustainable Development Goals

SDG 3: 3. Good health