Associated Papers
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.
Rowlands CF et al.
American Journal of Human Genetics, 2022
35065709 (PubMed )
Supplement: mmc1.pdf
Spontaneous mutations in the single TTN gene represent high tumor mutation burden.
Oh JH et al.
Npj Genomic Medicine, 2020
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Cummings BB et al.
Science Translational Medicine, 2017
Rare coding TTN variants are associated with electrocardiographic QT interval in the general population.
Kapoor A et al.
Scientific Reports, 2016
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