Review Publications

The diagnostic power of RNA-seq

rna-seq

Whole-exome sequencing (WES) and whole-genome sequencing (WGS) can only identify rare Mendelian genetic diseases in up to 50% of cases; our ability to interpret the functional and clinical importance of the genetic variants they identify is limited. Here, Cummings et ...

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Power analysis of single-cell RNA-sequencing experiments

Single-cell RNA sequencing (scRNA-seq) has become an established and powerful method to investigate transcriptomic cell-to-cell variation, thereby revealing new cell types and providing insights into developmental processes and transcriptional stochasticity. A key question is how the variety of available protocols ...

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