Extended Data Fig. 7: IGV screenshot of mother–daughter sequencing duo for individual #3. | Nature Genetics

Extended Data Fig. 7: IGV screenshot of mother–daughter sequencing duo for individual #3.

From: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

Extended Data Fig. 7: IGV screenshot of mother–daughter sequencing duo for individual #3.The alternative text for this image may have been generated using AI.

The RNU5B-1 n.39_40insT variant is highlighted with a blue arrow. The informative maternal variant is highlighted by a green arrow. Note that in all the informative reads in the proband, the two variants are present in cis, showing that the proband’s RNU5B-1 n.39_40insT variant is highly likely to have arisen on the maternal allele.

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