Genetic variations of human leukocyte antigen (HLA) genes within the major histocompatibility complex (MHC) locus are strongly associated with disease susceptibility and prognosis for many diseases, including many autoimmune diseases. In this study, we developed a Korean HLA reference panel for imputing classical alleles and amino acid residues of several HLA genes. An HLA reference panel has p...

Imputation is a powerful in silico approach to fill in those missing values in the big datasets. This process requires a reference panel, which is a collection of big data from which the missing information can be extracted and imputed. Haplotype imputation requires ethnicity-matched references; a mismatched reference panel will significantly reduce the quality of imputation. However, currently...

19 Imputation of genotypes in a study sample can make use of sequenced or densely genotyped 20 external reference panels consisting of individuals that are not from the study sample. It can 21 also employ internal reference panels, incorporating a subset of individuals from the study 22 sample itself. Internal panels offer an advantage over external panels, as they can reduce 23 imputation erro...

Imputation of genotypes in a study sample can make use of sequenced or densely genotyped external reference panels consisting of individuals that are not from the study sample. It also can employ internal reference panels, incorporating a subset of individuals from the study sample itself. Internal panels offer an advantage over external panels because they can reduce imputation errors arising ...

In 2002, a scientific review and consensus committee, which included representatives from the American Thyroid Association, the American Association of Clinical Endocrinologists, and the Endocrine Society convened a panel of expertise to define STD and review the literatures regarding the risk and benefit of treatment, the panel had come out with definition of subclinical hypothyroidism as (a s...

Most countries are using some kinds of pharmaceutical policies, like external reference-based pricing, to control the costs of medicines. This policy could be implemented in different ways and there is no systematic method for selecting reference countries. In this study, we tried to identify and classify the factors affecting the selection of reference countries in Iran. Delphi method was empl...

Background: While increasingly large reference panels for genome-wide imputation have been recently made available, the degree to which imputation accuracy can be enhanced by population-specific reference panels remains an open question. In the present study, we sequenced at full-depth (≥30x) a moderately large (n=738) cohort of samples drawn from the Ashkenazi Jewish population across two plat...