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Paper Details

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Genetics
1
2023
Exonic variants, RNA, autism, exonic variants, haploinsufficient genes, mRNA, pathogenic alleles, rare coding variants, rare exonic variants, splice-regulatory genetic variants, splice-regulatory variants
Author NameAffiliation
Dafni A Glinos
Eric BoerwinkleSchool of Public Health, University of Texas Health at Houston
Eric BoerwinkleSchool of Public Health, University of Texas Health at Houston
Peter J CastaldiBrigham & Women's Hospital
Peter J CastaldiBrigham & Women's Hospital
Mariza de AndradeMayo Clinic
Mariza de AndradeMayo Clinic
Patrick T EllinorMassachusetts General Hospital
Patrick T EllinorMassachusetts General Hospital
Myriam FornageBrown Foundation Institute of Molecular Medicine, McGovern Medical School, University of Texas Health at Houston
Stacey GabrielBroad Institute
Stacey GabrielBroad Institute
Craig P HershBrigham and Women's Hospital
Robert C KaplanAlbert Einstein College of Medicine
Charles KooperbergFred Hutchinson Cancer Research Center
Ruth J F LoosIcahn School of Medicine at Mount Sinai
Deborah A MeyersUniversity of Arizona
Braxton D MitchellUniversity of Maryland School of Medicine
Braxton D MitchellGeriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center
Bruce M PsatyCardiovascular Health Research Unit, University of Washington
Ramachandran S VasanBoston University
Stephen S RichUniversity of Virginia
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-university of california los angeles Medical Center
Aabida SaferaliBrigham and Women's Hospital
Moore Benjamin ShoemakerVanderbilt University
Edwin K SilvermanBrigham & Women's Hospital
Edwin K SilvermanBrigham & Women's Hospital
Albert V SmithUniversity of Michigan ann arbor
Albert V SmithUniversity of Michigan ann arbor
Pejman MohammadiThe Scripps Research Institute
Stephane E Castel
Stephane E Castel
Tuuli Lappalainen
Tuuli LappalainenColumbia University
Tuuli LappalainenKTH Royal Institute of Technology
Tuuli Lappalainen
Tuuli LappalainenColumbia University
Tuuli LappalainenKTH Royal Institute of Technology
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Datasets

GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link
GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link
GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link
GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link
GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link
GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link
GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link
GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link
GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link
GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link
GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link
GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link
GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link
GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link
GTExThe Genotype-Tissue Expression (GTEx) project aims to provide to the scientific community a resource with which to study human gene expression and regulation and its relationship to genetic variation. This project collected and analyzed multiple human tissues from donors who are also densely genotyped, to assess genetic variation within their genomes. By analyzing global RNA expression within individual tissues and treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation can be identified as expression quantitative trait loci, or eQTLs.Link