Hardip R. Patel

The paper investigates dosage compensation in the eastern three-lined skink, finding that X chromosome expression in sex-reversed individuals matches their genotype rather than phenotype.

The paper identifies transcriptomic signatures in aphthous ulcers of Crohn's disease, suggesting bacterial invasion initiates inflammation rather than dysbiosis.

This paper presents a high-quality chromosome-scale genome assembly for the Australian alpine skink Bassiana duperreyi using long-read technologies, achieving high completeness and providing a resource for sex determination and thermolabile sex reversal studies.

The paper presents a high-quality, telomere-to-telomere genome assembly and annotation for the central bearded dragon, providing insights into its sex determination mechanisms.

This study profiles genomic structural variation in Indigenous Australians using whole genome long-read sequencing, revealing abundant and previously unannotated variants and unique STR diversity.

The paper examines the application of distance measures to SNP genotypes and sequence tag presence-absences, highlighting pitfalls in their use and visualization.

The paper traces the origin and evolution of microchromosomes across birds, reptiles, and mammals, finding they are conserved and functionally coherent, with mammals being atypical in losing them.

The paper develops a method to impute missing mitochondrial DNA variants using a large reference alignment, improving haplogroup assignment and enabling better integration of mtDNA data from different sources.

The paper identifies a shift in the active miRNA targetome in a mouse model of retinal degeneration, showing changes in miRNA binding regions and AGO2 localization.

PACIFIC detects SARS-CoV-2 and co-infecting RNA viruses in RNA-seq data with high precision and recall across multiple datasets.

Kmer2SNP is a reference-free SNP caller that uses k-mer frequency and graph matching to improve speed and accuracy over existing methods.

The paper uses RNA-sequencing to study immune responses in retinal inflammation, identifying Factor B's role in macrophage infiltration and inflammation.