Genetic Analysis of Quantitative Facial Variation: CIDR
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ABSTRACT:
PROVIDER: PRJNA288844 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Genetic Analysis of Quantitative Facial Variation: CIDR
| PRJNA288845 | ENA
Project description:FaceBase Study of Facial Shape in Tanzania: CIDR
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Project description:CIDR: The Genetic Basis of Aggressive Prostate Cancer: The Role of Rare Variation
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Project description:CIDR: The Genetic Basis of Aggressive Prostate Cancer: The Role of Rare Variation
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Project description:<p>The purpose of this project is to identify genes associated with normal human quantitative facial variation. The motivation for this project stems from the fact that very little is known about how variation in specific genes relates to the diversity of facial forms commonly observed in humans. Viable candidates for these morphogenes originate from a number of sources: tissue expression studies, animal models with targeted or spontaneous mutations, and genetic syndromes with craniofacial manifestations. Importantly, understanding the genetic basis for normal facial variation also has important implications for health-related research. For example, this work has the potential to shed light on the factors influencing liability to common craniofacial anomalies such as orofacial clefts. There is now ample evidence that certain facial features (e.g., increased midfacial retrusion) characterize individuals genetically at-risk for orofacial clefts (e.g., biological relatives of affected cases). While these predisposing facial features are statistically over-represented in at-risk groups, they are also common in the general population. Since many of the current candidate genes for clefting are thought to play a critical role in facial morphogenesis, variation in these genes may also underlie normal variation in these facial features. These candidate genes, however, probably represent only a small fraction of the total number of loci influencing normal human facial variation.</p> <p>Phenotypes for this project were obtained from over 3000 healthy Caucasian subjects recruited through three separate studies. The majority of the subjects were recruited as part of the 3D Facial Norms Project, which is described in extensive detail here: (<a href="https://www.facebase.org/facial_norms/notes" target="_blank">https://www.facebase.org/facial_norms/notes</a>). The provided dbGaP phenotypes include a series of anthropometric craniofacial measurements (linear distances) primarily derived from 3D photographic facial surface scans (see previous hyperlink). The specific genotyping requested is described elsewhere in this document. Our analysis team is pursuing a variety of different analytic approaches to derive genetically informative phenotypes, including various shape-based morphometric methods. For those interested in pursuing more advanced phenotypic approaches, the original 3D surface scans and additional phenotypic traits are available to researchers through the FaceBase Consortium.</p> <p>This dataset has the potential to facilitate the discovery of new genetic loci with an important role in both normal and abnormal facial development. It may also serve as a dataset to test hypotheses regarding specific SNP associations (e.g. as a replication dataset) or as part of a larger meta-analysis.</p>
| phs000949 | dbGaP
Project description:A quantitative genetic analysis of the yeast replicative life span was carried out by sampling the natural genetic variation
2012-07-18 | GSE37590 | GEO
Project description:A quantitative genetic analysis of the yeast replicative life span was carried out by sampling the natural genetic variation Genomic DNA was extracted from 39 recombinant lines from a cross between strains S96 and YJM 789.
2012-07-17 | E-GEOD-37590 | biostudies-arrayexpress
Project description:Genetic variation governs protein expression through both transcriptional and post-transcriptional processes. To investigate this relationship, we combined a multiplexed, mass spectrometry-based method for protein quantification with an emerging mouse model harboring extensive genetic variation from 8 founder strains. We collected genome-wide mRNA and protein profiling measurements to link genetic variation to protein expression differences in livers from 192 diversity outcross mice. We observed nearly 3,700 protein-level quantitative trait loci (pQTL) with an equal proportion of proteins regulated directly by their cognate mRNA as uncoupled from their transcript. Our analysis reveals an extensive array of at least five models for genetic variant control of protein abundance including direct protein-to-protein associations that act to achieve stoichiometric balance of functionally related enzymes and subunits of multimeric complexes.
2017-11-08 | MSV000081696 | MassIVE
Project description:Discovering the Genetic Basis of Cleft Palate: CIDR
| PRJNA671433 | ENA
Project description:Discovering the Genetic Basis of Cleft Palate: CIDR
| PRJNA671434 | ENA