Tag: Variant

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes – Genome Medicine

Initial whole-exome sequencing dataset of unrelated probands We considered all unrelated individuals (probands) carrying a SORL1 rare (allele frequency < 1%) non-synonymous variant identified in a whole-exome sequencing (WES) dataset,…

First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate – BMC Medical Genomics

In this case, trio-WES and bioinformatics analysis were used for causative gene filtration and aetiological diagnosis, and the results were validated by traditional gold standard immunofluorescence antigen mapping (IFM) analysis…