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A 63-bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita

<p>This dataset includes genotype and phenotype data of 11 affected (case) and 23 unaffected (control) pigs for AMC case-control haplotype association testing and a VCF file of 809 candidate variants compatible with recessive inheritance of AMC.</p> <ol> <li>Genotype data (AMC.bed, AMC.bim and AMC.fam): &nbsp;34 pigs genotyped with&nbsp;Illumina PorcineSNP60 Genotyping Bead chips.</li> <li>Phenotype data (AMC.pheno): the first, second and third column is Family ID, Animal ID and phenotype (1=case;2=control), respectively.</li> <li>AMC candidate variants compatible with recessive inheritance (AMC_candidate_muations.vcf.gz and&nbsp;AMC_candidate_muations.vcf.gz.tbi). Sequencing data of five animals in AMC pedigree have also been deposited at the Sequence Read Archive of the NCBI at the BioProject PRJNA622908&nbsp;under sample accessions SAMN14532191, SAMN14532478, SAMN14532769, SAMN14532790 and SAMN14532792.</li> </ol>

ShareScore

36/100

Overall dataset sharing score

Score breakdown

These five areas show where the dataset supports — or may limit — practical reuse.

Stewardship
4
Harmonization
4
Access
20
Reuse readiness
8
Engagement
0