Gene-specific metrics to facilitate identification of disease genes for molecular diagnosis in patient genomes: a systematic review

Author:

Alyousfi Dareen1,Baralle Diana23,Collins Andrew1

Affiliation:

1. Genetic Epidemiology and Bioinformatics Research Group, Human Development and Health, Faculty of Medicine, University of Southampton, UK

2. Human Development and Health, Faculty of Medicine, University of Southampton, UK

3. Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK

Funder

Saudi Arabia Cultural Bureau in London

National Institute for Health Research

Publisher

Oxford University Press (OUP)

Subject

Genetics,Molecular Biology,Biochemistry,General Medicine

Reference45 articles.

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2. Genic intolerance to functional variation and the interpretation of personal genomes;Petrovski;PLoS Genet,2013

3. Characterising and predicting haploinsufficiency in the human genome;Huang;PLoS Genet,2010

4. Evaluation of PICO as a knowledge representation for clinical questions;Huang;AMIA Annu Symp Proc,2006

5. Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes;Hsu,2016

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