Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies

Overview of attention for article published in BMC Bioinformatics, November 2022

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RT @BMC_series: Since genome sequencing sometimes fails to diagnose rare diseases, the following article in #BMCBioinformatics suggests thi…

@BoWang87 @s_batzoglou @StevenSalzberg1 @manoliskellis @volokuleshov https://t.co/GIJrTV76Gg Incorporating constraint with SpliceAI improves pathogenic splice variant prediction by a big margin

RT @BMC_series: Since genome sequencing sometimes fails to diagnose rare diseases, the following article in #BMCBioinformatics suggests thi…

RT @BMC_series: Since genome sequencing sometimes fails to diagnose rare diseases, the following article in #BMCBioinformatics suggests thi…

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