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Article

Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants.

American journal of human genetics - 4 Sept 2014

Li Xin, Battle Alexis, Karczewski Konrad J, Zappala Zach, Knowles David A, Smith Kevin S, Kukurba Kim R, Wu Eric, Simon Noah, Montgomery Stephen B

Abstract excerpt

Recent and rapid human population growth has led to an excess of rare genetic variants that are expected to contribute to an individual's genetic burden of disease risk. To date, much of the focus has been on rare protein-coding variants, for which potential impact can be estimated from the genetic code, but determining the impact of rare noncoding variants has been more challenging. To improve our understanding...

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Identifiers

PMID: 25192044
DOI: 10.1016/j.ajhg.2014.08.004
PMCID: PMC4157143

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

Source receipt: pubmed, retrieved 5 Sept 2026.

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