Reference consortiumProject MinE is happy to contribute to better quality genetics research for various diseases. Whole genome sequencing as used in Project MinE is still quite new. It gives very rich genetic data. Other genetics research can benefit by using this sequencing data for genotype imputation. A large reference panel is now available to improve analyses of research of all kinds of diseases.

The Haplotype Reference Consortium (HRC) has created a reference panel of 64,976 haplotypes for genotype imputation. A haplotype is a group of genes in a person that are inherited together from a single parent. The goal is to get a lot of data on genetic variation to improve the quality of genetics research.

Multiple cohorts have combined their anonymous sequencing data. Project MinE is one of those cohorts or research projects. This huge reference panel can be used by researchers worldwide for data imputation, that means for filling in missing data to improve the analyses. The reference panel is being used for genotype imputation and phasing in many genome-wide association studies (GWAS), where genotypes are available from genome-wide SNP microarrays.

The scientific paper about the reference consortium is published in Nature Genetics and is available full-text in the free online archive bioRvix.

Read more about how Project MinE data helps research of other diseases through the haplotype reference consortium.