Taylor M. Maurer

Integrating sequence-to-omics predictions and personal multi-omics for rare variant prioritization

The paper introduces Watershed-DL, a framework integrating sequence-to-omics predictions and multi-omics data to prioritize rare variants, finding it increases prioritized variants by 61.4% and identifies candidate disease alleles.

Long-read genome sequencing and multi-omics in aging and neurodegeneration

The paper uses long-read genome sequencing and multi-omics data to identify structural variants associated with aging and neurodegenerative diseases, finding that SVs are more likely to be causal than SNVs.

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

The paper identifies individuals with minor spliceopathies by analyzing transcriptome-wide splicing outliers in RNA-seq data from rare disease cohorts.

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.