RNA splicing is a primary link between genetic variation and disease
about
The Future is The Past: Methylation QTLs in SchizophreniaNeuroblastoma, a Paradigm for Big Data Science in Pediatric Oncology.An Expanded View of Complex Traits: From Polygenic to OmnigenicregSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution.ISVASE: identification of sequence variant associated with splicing event using RNA-seq data.Analysis of Transcriptional Variability in a Large Human iPSC Library Reveals Genetic and Non-genetic Determinants of Heterogeneity.ulfasQTL: an ultra-fast method of composite splicing QTL analysis.Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.Genetic susceptibility variants for lung cancer: replication study and assessment as expression quantitative trait loci.Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations.Mechanisms of Type 2 Diabetes Risk Loci.Genetically contextual effects of smoking on genome wide DNA methylation.Mission Critical: The Need for Proteomics in the Era of Next-Generation Sequencing and Precision Medicine.Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci.The genetic regulation of transcription in human endometrial tissue.The roles of RNA processing in translating genotype to phenotypeMolecular mechanisms underlying noncoding risk variations in psychiatric genetic studiesGenome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism.Untangling Genetic Risk for Alzheimer's Disease.Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer.RNA expression in human retina.Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues.Genetic diagnosis of Mendelian disorders via RNA sequencing.Why do Individuals Differ in Viral Susceptibility? A Story Told by Model Organisms.Analysis of alternative splicing events for cancer diagnosis using a multiplexing nanophotonic biosensorImproving genetic diagnosis in Mendelian disease with transcriptome sequencing.Identification of breast cancer associated variants that modulate transcription factor binding.Profiling RNA-Seq at multiple resolutions markedly increases the number of causal eQTLs in autoimmune disease.Common genetic variation drives molecular heterogeneity in human iPSCs.From mechanisms to therapy: RNA processing's impact on human genetics.Machine learning annotation of human branchpoints.Impact of regulatory variation across human iPSCs and differentiated cells.Environmental perturbations lead to extensive directional shifts in RNA processing.Co-expression networks reveal the tissue-specific regulation of transcription and splicing.A group II metabotropic glutamate receptor 3 (mGlu3, GRM3) isoform implicated in schizophrenia interacts with canonical mGlu3 and reduces ligand binding.Annotation-free quantification of RNA splicing using LeafCutter.Alternative start and termination sites of transcription drive most transcript isoform differences across human tissues.PROSPER Intervention Effects on Adolescents' Alcohol Misuse Vary by GABRA2 Genotype and Age.
P2860
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P2860
RNA splicing is a primary link between genetic variation and disease
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
RNA splicing is a primary link between genetic variation and disease
@en
type
label
RNA splicing is a primary link between genetic variation and disease
@en
prefLabel
RNA splicing is a primary link between genetic variation and disease
@en
P2093
P2860
P356
P1433
P1476
RNA splicing is a primary link between genetic variation and disease
@en
P2093
Allegra A Petti
Bryce van de Geijn
David A Knowles
David Golan
Jonathan K Pritchard
Yoav Gilad
P2860
P304
P356
10.1126/SCIENCE.AAD9417
P407
P577
2016-04-28T00:00:00Z