Integrating whole genome and transcriptome sequencing to characterize the genetic architecture of isoform variation

We present a whole-blood isoform ratio QTL (irQTL) resource by analyzing genome-wide isoform-to-gene expression ratios using sequencing data. In Framingham Heart Study (FHS, n = 2622) discovery, we identify over 1.1 million cis -irQTLs (minor allele frequency [MAF] ≥ 0.01, ±1 Mb of 10,883 isoform t...

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Veröffentlicht in:	Nature communications Jg. 16; H. 1; S. 10615 - 15
Hauptverfasser:	Liu, Chunyu, Joehanes, Roby, Ma, Jiantao, Xie, Jiuyong, Yang, Jian, Wang, Mengyao, Huan, Tianxiao, Hwang, Shih-Jen, Wen, Jia, Sun, Quan, Demirkale, Cumhur Y., Heard-Costa, Nancy L., Orchard, Peter, Carson, April P., Haessler, Jeffrey W., Raffield, Laura M., Reiner, Alex P., Franceschini, Nora, Auer, Paul L., Kooperberg, Charles, Li, Yun, O’Connor, George, Murabito, Joanne M., Munson, Peter, Levy, Daniel
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	London Nature Publishing Group UK 22.11.2025 Nature Publishing Group Nature Portfolio
Schlagworte:	38 49/23 631/208/1792 631/208/205 692/499 692/699/75 Blood pressure Body mass index Diabetes DNA methylation Female Gene expression Gene Expression Profiling Gene Frequency Gene regulation Gene sequencing Genes Genetic diversity Genetic variance Genome, Human Genome-wide association studies Genome-Wide Association Study Genotype & phenotype Health promotion Heart High density lipoprotein Humanities and Social Sciences Humans Hypertension Isoforms Male Middle Aged multidisciplinary Polymorphism, Single Nucleotide Protein Isoforms - genetics Proteins Quantitative trait loci Quantitative Trait Loci - genetics Regulatory mechanisms (biology) Science Science (multidisciplinary) Transcriptome - genetics Transcriptomes Whole Genome Sequencing Womens health
ISSN:	2041-1723, 2041-1723
Online-Zugang:	Volltext
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