Reference-based phasing using the Haplotype Reference Consortium panel

Phasing for medical sequencing using rare variants and large haplotype reference panels

MOTIVATION There is growing recognition that estimating haplotypes from high coverage sequencing of single samples in clinical settings is an important problem. At the same time very large datasets consisting of tens and hundreds of thousands of high-coverage sequenced samples will soon be available. We describe a method that takes advantage of these huge human genetic variation resources and r...

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data set of 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic variation down to 0.1% minor allele fr...

Genome Reference Consortium

NCBI is a member of the Genome Reference Consortium (GRC), an international collaboration that oversees updates and improvements to the human, mouse, and zebrafish reference genome assemblies. These reference assemblies include linear chromosome representations, unlocalized and unplaced scaffold sequences, and alternate loci scaffolds providing alternate sequence representations for genome regi...

Selecting reference countries in external reference based pricing: The case study of Iran

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...

The OpenFog Consortium Reference Architecture: Executive Summary