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Transcriptome sequencing of a large human family identifies the impact of rare non-coding variants

ChEBI2014-09-01 更新2026-07-21 收录

家族遗传学

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https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-56961 数据链接链接失效反馈

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Transcriptome sequencing of a large human family identifies the impact of rare non-coding variants

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2014-09-01

DNA甲基化

家族遗传学

Epigenetic factors such as DNA methylation are DNA alterations affecting gene expression that can convey environmental information through generations. Only a few studies have demonstrated epigenetic

DataCite Commons2020-09-03 更新90

Additional file 3 of The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases

GWAS验证

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Additional file 3 contains all the validated variants and their details. The file is formatted to include separate rows for unique PMID-variant-gene triples, therefore variants that regulate multiple

NIAID Data Ecosystem80

Large multicohort study reveals a prostate cancer susceptibility allele at 5p15 regulating TERT via androgen signaling-orchestrated chromatin binding of E2F1 and MYC

前列腺癌表观遗传

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Aberrant telomerase reverse transcriptase (TERT) expression is crucial for tumour survival and cancer cells escaping apoptosis. Multiple TERT-locus variants at 5p15 have been discovered in association

NIAID Data Ecosystem60

A role for non-coding variation in schizophrenia. Homo sapiens

精神遗传学

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A large portion of common variant loci associated with genetic risk for schizophrenia reside within non-coding sequence of unknown function. Here, we demonstrate promoter and enhancer enrichment in sc

NIAID Data Ecosystem80

Additional file 2: of Mechanistic interpretation of non-coding variants for discovering transcriptional regulators of drug response

药物反应转录调控

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The file includes seven supplementary tables. All supplementary tables are included as sheets in this Excel file. Legends for these tables are provided here. (1) Table S1. The number of motifs for eac

Figshare2019-07-31 更新80

Transcriptome sequencing of a large human family identifies the impact of rare non-coding variants

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