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appraise's Introduction

APPRAISE

A Bayesian framework for the analysis and interpretation of rare genetic variants

This repository contains data and scripts in order to reproduce the analyses described in:

Ruklisa D, Ware JS, Walsh R, Balding DJ, Cook SA. Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity. Genome Medicine. 2015;7:5.

http://genomemedicine.com/content/7/1/5

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appraise's Issues

Genome coordinates for LQTS variants

Do you happen to have the genome coordinates (and genome build) for the LQTS benign and pathogenic variants you used? Currently all that is reported in Table S1 is a partial HGVS description of the coding position of the variant. However, this can only be unambiguously placed on the reference genome if one also knows the transcript of to which the coding position refers. This info is lacking from Table S1. As such, updating this file with reference genome coordinates would make your work much more accessible and allow others to more broadly use your results. Could you do this?

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