Published in

American Association for the Advancement of Science, Science, 6463(366), p. 351-356, 2019

DOI: 10.1126/science.aay0256

Links

Tools

Export citation

Search in Google Scholar

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

Full text: Unavailable

Green circle
Preprint: archiving allowed
Green circle
Postprint: archiving allowed
Red circle
Published version: archiving forbidden
Data provided by SHERPA/RoMEO

Abstract

A statistical model to find disease genes Genetic variation is high among individuals, which makes it difficult to identify any one specific pathogenetic variant in patients with idiopathic disease, especially those that are in noncoding regions of the genome. Examining tissue-specific and population-level RNA sequencing data, Mohammadi et al. developed a statistical test, analysis of expression variation (ANEVA), that can quantify how one individual's gene expression fits in the context of the variation within the general population. By applying ANEVA to a dosage outlier test, the authors identified pathogenic gene transcripts in patients with Mendelian muscle dystrophy. Science , this issue p. 351