Mountain View
biomedical and healthCAre Data Discovery Index Ecosystem
help Advanced Search
  1. << Go Back
Title: Genomic And Metabolomic Profiling Of Finnish Familial Dyslipidemia Families      
keywords:
Phenotype or Genotype
ID:
PRJNA324462
description:
This proposal is to re-investigate, using metabolomic profiling and advanced genomics technologies, 92 Finnish pedigrees that were ascertained for two forms of complex heritable dyslipidemia: familial combined hyperlipidemia (FCHL) and low serum levels of high density lipoprotein cholesterol (HDL-C). These families were extensively phenotyped for metabolic measures and while linkage analyses yielded strong findings for FCHL and HDL-C in several chromosomal locations, identification of causal variants had been limited by the lack of sufficiently powerful technologies for both phenotypic and genotypic characterization. We now propose to re-analyze these families by obtaining new phenotypes hypothesized to more accurately reflect the biological underpinnings of dyslipidemias than the previously used composite lipid measures. The unique population structure of Finland provides special advantages for discovery of low frequency and rare disease-related variants... (for more see dbGaP study page.)
accesstypes:
download
landingpage: http://www.ncbi.nlm.nih.gov/bioproject/PRJNA324462
authentication:
none
authorization:
none
name:
Homo sapiens
ncbiID:
ncbitax:9606
abbreviation:
NCBI
homePage: http://www.ncbi.nlm.nih.gov
ID:
SCR:006472
name:
National Center for Biotechnology Information
homePage: http://www.ncbi.nlm.nih.gov/bioproject
ID:
SCR:004801
name:
NCBI BioProject

Feedback?

If you are having problems using our tools, or if you would just like to send us some feedback, please post your questions on GitHub.

bioCADDIE is supported by the National Institutes of Health through the Big Data to Knowledge, Grant 1U24AI117966-01. NIH | UCSD | DBMI

For more information about bioCADDIE, please visit bioCADDIE