Aditi Chawla

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.

Development of a comprehensive genome-wide cardiovascular disease genetic risk assessment test

This paper develops a genome-wide cardiovascular disease genetic risk assessment test that includes monogenic conditions, risk alleles, pharmacogenomic variants, and polygenic risk scores, showing high performance and scalability.

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

Spinal muscular atrophy diagnosis and carrier screening from whole-genome sequencing data

This paper develops a method to accurately determine SMN1 and SMN2 copy numbers from whole-genome sequencing data, enabling SMA diagnosis and carrier screening with high precision and recall.

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.