Vollger et al. (2025) Synchronized long-read genome, methylome, epigenome, and transcriptome profiling resolve a Mendelian condition Simultaneous profiling of the genome, methylome, epigenome, and transcriptome using single-molecule chromatin fiber sequencing and multiplexed arrays isoform sequencing identifies the genetic and molecular basis of an undiagnosed Mendelian disease case with an X;13-balanced translocation. Our multi-omics approach revealed…
Blue et al. (2024) Dual Diagnosis of UQCRFS1-related Mitochondrial Complex III Deficiency and recessive GJA8-related Cataracts We describe the relationship between consanguinity, multi-system disease, and multiple genetic diagnoses of rare disease for a single proband. This report highlights the implementation of both genome sequencing and proteomics to increase diagnostic yield and early diagnosis. We demonstrate…
Xue, Blue, Conomos, Fohner (2024) The power of representation: Statistical analysis of diversity in US Alzheimer’s disease genetics data We determined the available array and sequencing data for US studies of Alzheimer’s disease (AD) by reported race and ethnicity, then simulated the statistical power of these datasets to identify risk variants comparable to those found…
Horimoto, Boyken, Blue, et al. (2023) Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations Admixed populations descended from multiple ancestral populations are under-represented in genetic studies of disease while the studies that are available are limited by small sample sizes and analytical challenges. To address those challenges, we…
Stergachis*, Blue*, et al. (2023) Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A *co-first authors Although 90% of patients with Charcot-Marie-Tooth 2A (CMT2A) [MIM: 609260] have dominant-negative pathogenic variants in MFN2, recessive inheritance has been reported for patients with biallelic loss-of-function variants. We identified a patient with a homozygous intronic MFN2 c.600-31T>G…
Blue et al. (2023) Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome We show that the genetic basis of isolated hypoplastic left heart syndrome (iHLHS) is not explained by single, large effect alleles in genes previously reported to underlie iHLHS or congenital heart disease. Instead, we find that rare coding changes…