Search Results - Andrew D. Phillips
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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine by Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Shaw, Andrew D. Phillips, D.N. Cooper
Published 2013Revisão -
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The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies by Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, D.N. Cooper
Published 2017Revisão -
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Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics by D.N. Cooper, Jian‐Min Chen, Edward V. Ball, Katy Howells, Matthew Mort, Andrew D. Phillips, Nadia Chuzhanova, Michael Krawczak, Hildegard Kehrer‐Sawatzki, Peter D. Stenson
Published 2010Revisão -
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The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting by Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luı́sa Azevedo, Matthew Hayden, Sally Heywood, David Millar, Andrew D. Phillips, D.N. Cooper
Published 2020Revisão -
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Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing by Yali Xue, Yuan Chen, Qasim Ayub, Ni Huang, Edward V. Ball, Matthew Mort, Andrew D. Phillips, Katy Shaw, Peter D. Stenson, D.N. Cooper, Chris Tyler‐Smith
Published 2012Artigo
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Biology
Computational biology
Gene
Genetics
Mutation
Computer science
Database
Human genetics
Genome
Gene mutation
Genomics
Germline mutation
Medicine
Bioinformatics
Disease
Human genome
Pathology
1000 Genomes Project
Allele
Annotation
Environmental health
Genotype
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Missense mutation
Personalized medicine
Population
Single-nucleotide polymorphism