Submission | GVM000001 2017-05-25 Kunming Institute of Zoology |
Organism | Homo sapiens |
Version | GRCh37 |
Disease/Trait | PPD; OMIM#188740 |
BioProject | |
Sample numbers | 43 |
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 date | 2023-07-04 |
Available data | |
data submitter: tangbx@big.ac.cn | |
PPD-sample-information.xlsx | |
ppd1-22.vcf |