Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome

Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. https://t.co/0CxPDkF0Oq

.@AnneOtation #GRD20: CMG did trio exome and copy number variant analysis -- still no luck. Then moved on to whole genome and found a de novo del of FBN1 that deleted part of exon 32 and caused inframe exon skipping. https://t.co/3u7xCsoe7t

a great story where several years of hard work paid off with finding of the FBN1 mutation on WGS

Congratulations everyone, especially Monica Wojcik @HereatMonica Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome https://t.co/SmqHWIPdUr