- The functional impact of rare variation across the regulatory cascade🔍
- The functional impact of rare variation across the regulatory cascade.🔍
- [PDF] The impact of rare variation on gene expression across tissues🔍
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- Integration of transcriptomics and long|read genomics prioritizes ...🔍
- Discovering mechanisms of human genetic variation and controlling ...🔍
- Variant|to|function dissection of rare non|coding GWAS loci with ...🔍
- The impact of rare variation on gene expression across tissues🔍
The functional impact of rare variation across the regulatory cascade
The functional impact of rare variation across the regulatory cascade
Each human genome has tens of thousands of rare genetic variants; however, identifying impactful rare variants remains a major challenge.
The functional impact of rare variation across the regulatory cascade
Li et al. investigate the functional impact of rare genetic variation across the regulatory cascade from RNA to protein. Using multi-omics data ...
The functional impact of rare variation across the regulatory cascade
With this approach, we identified rare variants that exhibited large effect sizes on multiple complex traits including height, schizophrenia, ...
The functional impact of rare variation across the regulatory cascade
We identified rare variants that exhibited large effect sizes on multiple complex traits including height, schizophrenia, and Alzheimer's disease.
The functional impact of rare variation across the regulatory cascade.
The functional impact of rare variation across the regulatory cascade. Cell genomics. Authors. Taibo Li. Nicole Ferraro. Benjamin Strober. Francois Aguet. Silva ...
The functional impact of rare variation across the regulatory cascade
Enrichment of rare variants nearby CpG-level mOutliers, related to Figure 3. (A) The relative risk of carrying a nearby rare variant within varying distances ...
The functional impact of rare variation across the regulatory cascade
Taibo Li1*, Nicole Ferraro2*, Benjamin J. Strober1,3, Francois Aguet4, Silva Kasela5,6, Marios Arvanitis1,7, Bohan Ni8, Laurens van de Wiel9, ...
The functional impact of rare variation across the regulatory cascade
Li, The impact of rare variation on gene expression across tissues, Nature, № 550, с. · Ferraro, Transcriptomic signatures across human tissues identify ...
Taibo on X: "Thrilled to share our work on the functional impact of ...
Thrilled to share our work on the functional impact of rare variants across the regulatory cascade https://t.co/tB5Y2Zi16Q Extremely ...
[PDF] The impact of rare variation on gene expression across tissues
It is demonstrated that rare variants contribute to large gene expression changes across tissues and provide an integrative method for interpretation of ...
knowing01 on LinkedIn: The functional impact of rare variation ...
Breakthrough in functional genomics: new Multiomics research study provides crucial progress in understanding the human genome and its ...
Integration of transcriptomics and long-read genomics prioritizes ...
... across human tissues identify functional rare genetic variation ... The functional impact of rare variation across the regulatory cascade.
Discovering mechanisms of human genetic variation and controlling ...
... variant effects with mechanistic detail across the entire regulatory cascade. Many single-cell genomics methods have been coupled to CRISPR-based gene ...
Variant-to-function dissection of rare non-coding GWAS loci with ...
... impact on megakaryopoiesis through regulation of the CUX1 transcriptional cascade. With this work we advance the understanding of the ...
The impact of rare variation on gene expression across tissues
To prioritize functional rare regulatory variants, we develop RIVER, a Bayesian approach that integrates RNA and whole genome sequencing data from the same ...
Functional genetic variants can mediate their regulatory effects ...
In this study, we provide direct evidence that functional variants can alter transcription factor binding. We identify a multifunctional variant ...
Regionally enriched rare deleterious exonic variants in the UK and ...
... rare variation across the ... Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.
Let's talk about sex: how biological sex affects functional variation across ... Mapping the regulatory effects of rare non-coding variants across ...
The impact of genomic structural variation on the transcriptome ...
... impact through a gene regulatory cascade. ... Transcriptomic signatures across human tissues identify functional rare genetic variation.
Functional Analysis of Rare Genetic Variants in Complement Factor I ...
... cascade through proteolytic cleavage of C3b generated by each pathway. ... To further investigate the pathophysiologic implications of harboring a rare variant ...