Discovery of Variants Underlying Simple and Complex Traits through Genome-Wide Association Study and Whole-Genome Resequencing
If no reference genome exists, then the generation of a de novo genome assembly of an organism is necessary because having a reference genome expedites the discoveries for simple and complex traits. Reference genomes for the domestic dog (Canis lupus familiaris) and chicken (Gallus gallus) have resu...
Main Author: | |
---|---|
Format: | Text |
Language: | unknown |
Published: |
Clemson University Libraries
2014
|
Subjects: | |
Online Access: | https://tigerprints.clemson.edu/all_dissertations/1713 https://tigerprints.clemson.edu/cgi/viewcontent.cgi?article=2714&context=all_dissertations |
id |
ftclemsonuniv:oai:tigerprints.clemson.edu:all_dissertations-2714 |
---|---|
record_format |
openpolar |
spelling |
ftclemsonuniv:oai:tigerprints.clemson.edu:all_dissertations-2714 2023-05-15T15:51:15+02:00 Discovery of Variants Underlying Simple and Complex Traits through Genome-Wide Association Study and Whole-Genome Resequencing Noorai, Rooksana Elizabeth 2014-05-01T07:00:00Z application/pdf https://tigerprints.clemson.edu/all_dissertations/1713 https://tigerprints.clemson.edu/cgi/viewcontent.cgi?article=2714&context=all_dissertations unknown Clemson University Libraries https://tigerprints.clemson.edu/all_dissertations/1713 https://tigerprints.clemson.edu/cgi/viewcontent.cgi?article=2714&context=all_dissertations All Dissertations text 2014 ftclemsonuniv 2022-07-17T13:25:51Z If no reference genome exists, then the generation of a de novo genome assembly of an organism is necessary because having a reference genome expedites the discoveries for simple and complex traits. Reference genomes for the domestic dog (Canis lupus familiaris) and chicken (Gallus gallus) have resulted in the development of single nucleotide polymorphism (SNP) arrays for use in genome-wide association studies (GWAS). Next-generation sequencing technologies provide a rapid, increasingly affordable method for the generation of genome resequencing data. The first objective of this work was to utilize existing genomic resources to investigate the genetic basis for traits of the dog and chicken. Episodic falling syndrome (EFS) is a recessive neurological disease of Cavalier King Charles spaniels. Using SNP profiles from only 12 individuals, EFS was mapped to chromosome 7; further experimentation led to the identification of the causative deletion. In a second example, SNP profiles from 197 German shepherd dogs were generated to identify loci underlying numerous diseases afflicting the breed, including recessive pituitary dwarfism, and three complex diseases: degenerative myelopathy, megaesophagus, and pancreatic acinar atrophy. Lastly, SNP profiles for 60 Araucana chickens were used to identify an association with the semi-dominant tailless rump (rumpless) phenotype on chromosome 2, as well as the recessive lethal ear-tufts phenotype on chromosome 15. Positional candidate genes were identified for both traits. The second objective of this work was to identify loci associated with dermatomyositis (DM) and to develop resources to facilitate the identification of the causative mutation. DM is an inflammatory myopathy affecting humans and domestic dogs, primarily the collie and Shetland sheepdog breeds where painful lesions on the face and extremities are characteristics. The second objective was accomplished through 1) assembly of a population of DM-affected and healthy control collies, 2) completion of a GWAS using ... Text Canis lupus Clemson University: TigerPrints Cavalier ENVELOPE(-69.462,-69.462,-67.825,-67.825) |
institution |
Open Polar |
collection |
Clemson University: TigerPrints |
op_collection_id |
ftclemsonuniv |
language |
unknown |
description |
If no reference genome exists, then the generation of a de novo genome assembly of an organism is necessary because having a reference genome expedites the discoveries for simple and complex traits. Reference genomes for the domestic dog (Canis lupus familiaris) and chicken (Gallus gallus) have resulted in the development of single nucleotide polymorphism (SNP) arrays for use in genome-wide association studies (GWAS). Next-generation sequencing technologies provide a rapid, increasingly affordable method for the generation of genome resequencing data. The first objective of this work was to utilize existing genomic resources to investigate the genetic basis for traits of the dog and chicken. Episodic falling syndrome (EFS) is a recessive neurological disease of Cavalier King Charles spaniels. Using SNP profiles from only 12 individuals, EFS was mapped to chromosome 7; further experimentation led to the identification of the causative deletion. In a second example, SNP profiles from 197 German shepherd dogs were generated to identify loci underlying numerous diseases afflicting the breed, including recessive pituitary dwarfism, and three complex diseases: degenerative myelopathy, megaesophagus, and pancreatic acinar atrophy. Lastly, SNP profiles for 60 Araucana chickens were used to identify an association with the semi-dominant tailless rump (rumpless) phenotype on chromosome 2, as well as the recessive lethal ear-tufts phenotype on chromosome 15. Positional candidate genes were identified for both traits. The second objective of this work was to identify loci associated with dermatomyositis (DM) and to develop resources to facilitate the identification of the causative mutation. DM is an inflammatory myopathy affecting humans and domestic dogs, primarily the collie and Shetland sheepdog breeds where painful lesions on the face and extremities are characteristics. The second objective was accomplished through 1) assembly of a population of DM-affected and healthy control collies, 2) completion of a GWAS using ... |
format |
Text |
author |
Noorai, Rooksana Elizabeth |
spellingShingle |
Noorai, Rooksana Elizabeth Discovery of Variants Underlying Simple and Complex Traits through Genome-Wide Association Study and Whole-Genome Resequencing |
author_facet |
Noorai, Rooksana Elizabeth |
author_sort |
Noorai, Rooksana Elizabeth |
title |
Discovery of Variants Underlying Simple and Complex Traits through Genome-Wide Association Study and Whole-Genome Resequencing |
title_short |
Discovery of Variants Underlying Simple and Complex Traits through Genome-Wide Association Study and Whole-Genome Resequencing |
title_full |
Discovery of Variants Underlying Simple and Complex Traits through Genome-Wide Association Study and Whole-Genome Resequencing |
title_fullStr |
Discovery of Variants Underlying Simple and Complex Traits through Genome-Wide Association Study and Whole-Genome Resequencing |
title_full_unstemmed |
Discovery of Variants Underlying Simple and Complex Traits through Genome-Wide Association Study and Whole-Genome Resequencing |
title_sort |
discovery of variants underlying simple and complex traits through genome-wide association study and whole-genome resequencing |
publisher |
Clemson University Libraries |
publishDate |
2014 |
url |
https://tigerprints.clemson.edu/all_dissertations/1713 https://tigerprints.clemson.edu/cgi/viewcontent.cgi?article=2714&context=all_dissertations |
long_lat |
ENVELOPE(-69.462,-69.462,-67.825,-67.825) |
geographic |
Cavalier |
geographic_facet |
Cavalier |
genre |
Canis lupus |
genre_facet |
Canis lupus |
op_source |
All Dissertations |
op_relation |
https://tigerprints.clemson.edu/all_dissertations/1713 https://tigerprints.clemson.edu/cgi/viewcontent.cgi?article=2714&context=all_dissertations |
_version_ |
1766386372280582144 |