Submission GVM000001
2017-05-25
Kunming Institute of Zoology
OrganismHomo sapiens
VersionGRCh37
Disease/TraitPPD; OMIM#188740
BioProject
Sample numbers43
Abstract

A six-generation family consisting of 45 individuals including 21 affected members and 24 normal relatives. All patients show hexadactyly of hands and feet. They have been diagnosed by physical examination & X-ray and assigned as isolated PPD-II on hand and isolated PPD-III on feet according to Temtamy and McKusick’s classification. we genotyped genome-wide SNPs and employed the identity-by-descent (IBD) to refine the mapping of potential candidate loci for PPD in the family. We adopted a series of quality control strategies by using PLINK 1.9. Two individuals with call rate < 90% were removed. The SNPs with call rate < 90%, minor allele frequency < 1%, and deviation of Hardy–Weinberg equilibrium (P<1e-6) were excluded. After filtering, a total of 595534 autosomal SNPs for 43 individuals were retained

Data Accessibility:Controlled access   
Release date2023-07-04
Available data
data submitter: tangbx@big.ac.cn
PPD-sample-information.xlsx
ppd1-22.vcf