Krista K. Bluske

Yield of Long-Read Genome Sequencing for Rare Disease Diagnosis in Short-Read Genome Negative Cases

This study evaluates the diagnostic yield of long-read genome sequencing in cases where short-read sequencing failed, finding an incremental yield of 4.7% due to LR-GS's ability to detect structural variants and other complex genomic features.

Identification of de novo variants from parent-proband duos via long-read sequencing

duoNovo identifies de novo variants from parent-proband duos using long-read sequencing, achieving high precision and low error rates in diagnostic evaluations.

Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

The paper develops Paraphase, a HiFi-based method to resolve highly similar paralogous genes, revealing genetic diversity and de novo events in segmental duplications.

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy and hypermobility syndrome: Further delineation of the 17p13.3 microdeletion spectrum

The paper investigates 17p13.3 deletions between YWHAE/CRK and PAFAH1B1, identifying white matter lesions and hypermobility, and narrows the critical region to 345 kb with RTN4RL1 as a candidate gene.

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

This study evaluates copy number variant detection in clinical whole genome sequencing, finding it as sensitive as microarrays with additional variants, and identifies clinically significant CNVs in 15% of cases.