Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
DR Murdock, H Dai, LC Burrage… - The Journal of …, 2021 - Am Soc Clin Investig
BACKGROUND Transcriptome sequencing (RNA-seq) improves diagnostic rates in
individuals with suspected Mendelian conditions to varying degrees, primarily by directing …
individuals with suspected Mendelian conditions to varying degrees, primarily by directing …
Detection of aberrant splicing events in RNA-seq data using FRASER
Aberrant splicing is a major cause of rare diseases. However, its prediction from genome
sequence alone remains in most cases inconclusive. Recently, RNA sequencing has proven …
sequence alone remains in most cases inconclusive. Recently, RNA sequencing has proven …
Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease
Our understanding of inherited retinal disease has benefited immensely from molecular
genetic analysis over the past several decades. New technologies that allow for increasingly …
genetic analysis over the past several decades. New technologies that allow for increasingly …