Deanna M Church

This paper evaluates GRCh38 and de novo haploid assemblies, finding that GRCh38 remains superior for complex genomic regions and coding sequences despite improvements in newer assemblies.

This study evaluates variant annotation consistency across tools and databases, finding significant discordance in variant descriptions, particularly for insertions and deletions.

The paper presents a haploid human genome assembly from a hydatidiform mole, highlighting its high quality but identifying misassembled regions enriched for structural variation.