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Article

Disease-associated variants in different categories of disease located in distinct regulatory elements.

BMC genomics - 1 Jan 2015

Ma Meng, Ru Ying, Chuang Ling-Shiang, Hsu Nai-Yun, Shi Li-Song, Hakenberg Jörg, Cheng Wei-Yi, Uzilov Andrew, Ding Wei, Glicksberg Benjamin S, Chen Rong

Abstract excerpt

BACKGROUND: The invention of high throughput sequencing technologies has led to the discoveries of hundreds of thousands of genetic variants associated with thousands of human diseases. Many of these genetic variants are located outside the protein coding regions, and as such, it is challenging t...

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Identifiers

PMID: 26110593
DOI: 10.1186/1471-2164-16-S8-S3
PMCID: PMC4480828

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-26110593-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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