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Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies.
Am J Hum Genet. 2019 May 2;104(5):802-814. doi: 10.1016/j.ajhg.2019.03.002. Epub 2019 Apr 12.
2
Simultaneous Detection of Signal Regions Using Quadratic Scan Statistics With Applications to Whole Genome Association Studies.
J Am Stat Assoc. 2022;117(538):823-834. doi: 10.1080/01621459.2020.1822849. Epub 2020 Nov 12.
3
A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies.
Nat Comput Sci. 2025 Feb;5(2):125-143. doi: 10.1038/s43588-024-00764-8. Epub 2025 Feb 7.
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A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.
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Identification of putative causal loci in whole-genome sequencing data via knockoff statistics.
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Enhancing the power to detect low-frequency variants in genome-wide screens.
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引用本文的文献

2
3
A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies.
Nat Comput Sci. 2025 Feb;5(2):125-143. doi: 10.1038/s43588-024-00764-8. Epub 2025 Feb 7.
6
Leveraging functional annotations to map rare variants associated with Alzheimer's disease with gruyere.
medRxiv. 2025 Mar 4:2024.12.06.24318577. doi: 10.1101/2024.12.06.24318577.
7
Whole-genome sequencing reveals rare variants associated with gout in Taiwanese males.
Front Genet. 2024 Sep 25;15:1423714. doi: 10.3389/fgene.2024.1423714. eCollection 2024.
9
The Genetic Determinants and Genomic Consequences of Non-Leukemogenic Somatic Point Mutations.
medRxiv. 2024 Aug 26:2024.08.22.24312319. doi: 10.1101/2024.08.22.24312319.

本文引用的文献

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Cauchy combination test: a powerful test with analytic -value calculation under arbitrary dependency structures.
J Am Stat Assoc. 2020;115(529):393-402. doi: 10.1080/01621459.2018.1554485. Epub 2019 Apr 25.
2
ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies.
Am J Hum Genet. 2019 Mar 7;104(3):410-421. doi: 10.1016/j.ajhg.2019.01.002.
3
Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies.
Am J Hum Genet. 2019 Feb 7;104(2):260-274. doi: 10.1016/j.ajhg.2018.12.012. Epub 2019 Jan 10.
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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.
Nat Commun. 2018 Aug 23;9(1):3391. doi: 10.1038/s41467-018-05747-8.
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Genetic Architecture of the Cardiovascular Risk Proteome.
Circulation. 2018 Mar 13;137(11):1158-1172. doi: 10.1161/CIRCULATIONAHA.117.029536. Epub 2017 Dec 19.
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FATHMM-XF: accurate prediction of pathogenic point mutations via extended features.
Bioinformatics. 2018 Feb 1;34(3):511-513. doi: 10.1093/bioinformatics/btx536.
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Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits.
Am J Hum Genet. 2017 Feb 2;100(2):205-215. doi: 10.1016/j.ajhg.2016.12.009. Epub 2017 Jan 12.
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Empirical Bayes scan statistics for detecting clusters of disease risk variants in genetic studies.
Biometrics. 2015 Dec;71(4):1111-20. doi: 10.1111/biom.12331. Epub 2015 Jun 1.

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