RNA Strain-Match: A tool for matching single-nucleus, single-cell, or bulk RNA-sequencing alignment data to its corresponding genotype

Willcox, J. A. L.; Telpoukhovskaia, M. A.; Hadad, N.; Boas, S. M.; Dunn, A.; Saul, M. C.; Ashbrook, D. G.; Williams, R. W.; O'Connell, K. M. S.; Kaczorowski, C. C.

doi:10.1101/2023.07.14.548847

bioRxiv · 10.1101/2023.07.14.548847

RNA Strain-Match: A tool for matching single-nucleus, single-cell, or bulk RNA-sequencing alignment data to its corresponding genotype

Willcox, J. A. L.·Telpoukhovskaia, M. A.·Hadad, N.·Boas, S. M.·Dunn, A.·Saul, M. C.·Ashbrook, D. G.·Williams, R. W.·O'Connell, K. M. S.·Kaczorowski, C. C.

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Abstract

When next generation sequencing is performed in large batches, there are several stages at which samples can be swapped or mislabeled. It is therefore helpful, when possible, to integrate measures into analysis pipelines to confirm that samples match their assigned metadata. Here, we introduce RNA Strain-Match (GitHub: https://github.com/jon-willcox/RNA-strain-match), a quality control tool developed to match RNA data in the form of sequence alignment files (i.e. SAM or BAM files) to their corresponding genotype without the use of an RNA variant call format file. We successfully used RNA Strain-Match in tandem with assessment of markers for sex and transgene status to identify and correct sample mismatches in 50/379 samples (13%) from two distinct recombinant inbred mouse models (BXD and Collaborative Cross). We believe this tool will be beneficial to any research group working with similar data.

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Willcox, J. A. L., Telpoukhovskaia, M. A., Hadad, N., Boas, S. M., Dunn, A., Saul, M. C., Ashbrook, D. G., Williams, R. W., O'Connell, K. M. S., Kaczorowski, C. C.. 2023-07-16. RNA Strain-Match: A tool for matching single-nucleus, single-cell, or bulk RNA-sequencing alignment data to its corresponding genotype. https://doi.org/10.1101/2023.07.14.548847

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