Article

Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients

2019-05-09

Abstract excerpt

Transcriptome data holds substantial promise for better interpretation of rare genetic variants in basic research and clinical settings. Here, we introduce ANalysis of Expression VAriation (ANEVA) to quantify genetic variation in gene dosage from allelic expression (AE) data in a population. Application to GTEx data showed that this variance estimate is robust across datasets and is correlated with selective const...

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Literature Corpus work: 7e5e7f09-e549-577b-b714-d5587b51de52
DOI: 10.1101/632794

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