Identifying the causal variant of a rare skeletal disorder using whole-genome sequencing Open Access
Daga, Vedant (Spring 2021)
Abstract
Desbuquois dysplasia (DBQD) is a severe skeletal disorder characterized by joint dislocation and stunted natal growth. We obtained and sequenced the DNA of two first cousins who clinically presented with a lethal form of DBQD. Our objective was to determine the causal variant for this disorder. Our first hypothesis was the disorder was autosomal recessive, and the individuals were homozygous for the same allele. The second hypothesis was the individuals were compound heterozygous, caused by two different alleles in the same gene. We performed whole-genome sequencing (WGS) of the two cousins, followed by computational analysis of the WGS data to identify a list of genetic variants. We then comprehensively sifted through the list of variants to identify putative mutations meeting the two hypotheses’ criteria. The results of this study can provide insight into the disease affecting the two individuals.
Table of Contents
Abstract……………………………………………………………………………1
Introduction……………………………………………………………………...2
Materials and Methods……………………………………………………......3
Results……………………………………………………………………………..6
Discussion………………………………………………………………………...10
Acknowledgements………………………………………………………….....12
References………………………………………………………………………...13
Figures/Appendix………………………………………………………………..16
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Identifying the causal variant of a rare skeletal disorder using whole-genome sequencing () | 2021-04-09 15:12:34 -0400 |
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