Devastatingly, 30% of children with a rare disease die before their fifth birthday, in part due to delayed diagnosis and limited treatment options.
At this point, there have been enough reported studies deploying a variety of sequencing tools for rare disease diagnosis that it is now possible to review the advantages and disadvantages of different approaches. For clinical laboratory teams, it can be instructive to consider the diagnostic outcomes of exome versus genome sequencing, proband versus trio sequencing, short-read versus long-read sequencing, the value of epigenetics, and more.
MLO’s June Continuing Education article: For rare pediatric diseases, genome sequencing can increase diagnostic yield by Nabihah Sachedina, MBBS, MPP, MBA, covers rare pediatric diseases, genomic sequencing, and disease variants.
Read For rare pediatric diseases, genome sequencing can increase diagnostic yield online
