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Paper Details

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
bioRxiv
0
2023
Exonic variants, RNA-seq, autism, exonic variants, haploinsufficient genes, mRNA, pathogenic alleles, rare coding variants, rare exonic variants, splice-regulatory genetic variants, splice-regulatory variants, transcript
Author NameAffiliation
Dafni A Glinos
Eric BoerwinkleUniversity of Texas Health at Houston.
Eric BoerwinkleUniversity 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.
Albert V SmithUniversity of Michigan.
Pejman MohammadiThe Scripps Research Institute.
Stephane E Castel
Stephane E Castel
Tuuli LappalainenColumbia University.
Tuuli LappalainenKTH Royal Institute of Technology.
Tuuli Lappalainen
Tuuli LappalainenColumbia University.
Tuuli LappalainenKTH Royal Institute of Technology.
Tuuli Lappalainen
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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