Use of whole-genome sequencing for diagnosis of suspected connective tissue disorder in canine patient

Background: Whole genome sequencing (WGS) is an underutilized tool for diagnosis of suspected genetic diseases, particularly in canines.
Objective: Utilize genetic analysis following WGS of an affected canine patient to pinpoint a potential genetic basis for disease.
Animals: One client-owned, ten-month-old Golden Retriever presenting with signs of possible connective tissue disorder. Blood and DNA samples from a non-affected German Shepherd-Beagle mix and seven Golden Retrievers previously tested for ichthyosis were used as controls.
Methods: A physical exam, blood draw, and radiographs were performed on the patient while at the hospital. WGS was performed on the DNA of the affected patient derived from EDTA blood, and genetic analysis focused on SNVs, small indels, and structural variants was performed to detect potential disease-causing mutations within the genome. PCR amplification and Sanger sequencing of a suspected region was performed to confirm presence of deletion.
Results: Th..., , # Use of whole-genome sequencing for diagnosis of suspected connective tissue disorder in canine patient

Dataset DOI: [10.5061/dryad.fn2z34v7b](10.5061/dryad.fn2z34v7b)

## Description of the data and file structure

Whole Genome Sequencing - 1 case, Golden retriever, affected by Suspected Connective Tissue Disorder.

HiSeq2500 paired-end reads 2x100 bp. Compatible with whole-genome mappers like BWA.\
\
CH001.R1.fastq.gz

CH001.R2.fastq.gz

### Files and variables

#### File: CH001.R1.fastq.gz

**Description:** Forward reads, canine WGS short reads

#### File: CH001.R2.fastq.gz

**Description:** Reverse reads, canine WGS short reads

## Code/software

Mapped and mappable with standard BWA or similar WGS mappers. Default options proved sufficient to detect the candidate variant.
, ,