Vidhya Jagannathan

Phloiokeratosis - a new ichthyosiform hyperkeratotic cornification disorder in dogs with SUV39H1 variants

This study identifies SUV39H1 variants in dogs with a new skin disorder, linking SUV39H1 deficiency to epidermal hyperkeratosis and highlighting its role in keratinocyte differentiation.

Evolutionary dynamics of a lethal recessive allele in reintroduced fragmented lynx populations

The paper identifies a recessive lethal allele in reintroduced lynx populations linked to organ mineralization, showing how inbreeding and founder effects drive its frequency increase.

A missense variant in PAOX in American Staffordshire Terriers with juvenile-onset polyneuropathy

This paper identifies a missense variant in the PAOX gene as the cause of juvenile-onset polyneuropathy in American Staffordshire Terriers, highlighting its potential as a model for human Charcot-Marie-Tooth disease.

Ancestry dynamics and trait selection in a designer cat breed

The paper analyzes ancestry and selection in Bengal cats using sequencing data to identify genetic factors underlying coat color traits.

Dog color patterns explained by modular promoters of ancient canid origin

The paper identifies regulatory modules controlling dog color patterns and shows their evolutionary origin in extinct canids.

Dog10K_Boxer_Tasha_1.0: A long-read assembly of the dog reference genome

The paper presents an improved long-read assembly of the dog reference genome, significantly enhancing contiguity and gene annotation.

Identification of two independent COL5A1 variants in dogs with Ehlers Danlos syndrome

The paper identifies two COL5A1 mutations in dogs with EDS-like symptoms, confirming a genetic basis for the condition and demonstrating the utility of DNA sequencing in diagnosis.

Developing a 670k genotyping array to tag ~2M SNPs across 24 horse breeds

The paper develops two new SNP arrays for horses, MNEc2M and MNEc670k, and demonstrates their imputation capabilities.

A structural variant in the 5′-flanking region of the TWIST2 gene affects melanocyte development in belted cattle

The paper identifies a non-coding copy number variant upstream of TWIST2 that causes a pigmentation trait in belted cattle by affecting melanocyte development.

FEELnc: A tool for Long non-coding RNAs annotation and its application to the dog transcriptome

FEELnc annotates long non-coding RNAs and mRNAs in the dog transcriptome, identifying 10,374 novel lncRNAs and 58,640 new mRNA transcripts.