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bioRxiv · 10.1101/546937

Assessment of kinship detection using RNA-seq data

Vavouri, T.·Blay, N.·Casas Masnou, E.·Galvan-Femenia, I.·Graffelman, J.·de Cid, R.
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Abstract

Analysis of RNA sequencing (RNA-seq) data from related individuals is widely used in clinical and molecular genetics studies. Sample labelling mistakes are estimated to affect more than 4% of published samples. Therefore, as a method of data quality control, a way to reconstruct pedigrees from RNA-seq data would be useful for confirming the expected relationships. Currently, reconstruction of pedigrees is based mainly on SNPs or microsatellites, obtained from genotyping arrays, whole genome sequencing and whole exome sequencing. Potential problems with using RNA-seq data for kinship detection are the low proportion of the genome that it covers, the highly skewed coverage of exons of different genes depending on expression level and allele-specific expression. In this study we assess the use of RNA-seq data to detect kinship between individuals, through pairwise identity-by-descent (IBD) estimates. First, we obtained high quality SNPs after successive filters to minimize the effects due to allelic imbalance as well as errors in sequencing, mapping and genotyping. Then, we used these SNPs to calculate pairwise IBD estimates. By analysing both real and simulated RNA-seq data we show that it is possible to identify up to second degree relationships using RNA-seq data of even low to moderate sequencing depth.

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Vavouri, T., Blay, N., Casas Masnou, E., Galvan-Femenia, I., Graffelman, J., de Cid, R.. 2019-02-11. Assessment of kinship detection using RNA-seq data. https://doi.org/10.1101/546937

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