The importance of phase information for human genomics

This Opinion article argues that capturing phase information in human genomics studies is crucial for important aims such as understanding how genotype contributes to phenotypes. existing approaches for phasing will need to be improved in order to meet this goal. Contemporary sequencing studies ofte...

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Bibliographic Details
Published inNature reviews. Genetics Vol. 12; no. 3; pp. 215 - 223
Main Authors Schork, Nicholas J, Tewhey, Ryan, Bansal, Vikas, Torkamani, Ali, Topol, Eric J
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 01.03.2011
Nature Publishing Group
Subjects
631/208/191
631/208/514/1948
Agriculture
Animal Genetics and Genomics
Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
Cancer Research
Chromosomes
Diploidy
Disease - genetics
Diverse techniques
DNA methylation
DNA sequencing
Fundamental and applied biological sciences. Psychology
Gene Deletion
Gene Duplication
Gene Expression
Gene Function
Genes
Genetic aspects
Genetic Association Studies
Genetic testing
Genetics of eukaryotes. Biological and molecular evolution
Genome, Human
Genomes
Genomics
Genotype & phenotype
Human Genetics
Humans
Molecular and cellular biology
Mutation
Nucleotide sequencing
opinion-2
Proteins
Sequence Analysis, DNA
Systemic lupus erythematosus
United States
Human
Review
Information
Genomics
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Summary:This Opinion article argues that capturing phase information in human genomics studies is crucial for important aims such as understanding how genotype contributes to phenotypes. existing approaches for phasing will need to be improved in order to meet this goal. Contemporary sequencing studies often ignore the diploid nature of the human genome because they do not routinely separate or 'phase' maternally and paternally derived sequence information. However, many findings — both from recent studies and in the more established medical genetics literature — indicate that relationships between human DNA sequence and phenotype, including disease, can be more fully understood with phase information. Thus, the existing technological impediments to obtaining phase information must be overcome if human genomics is to reach its full potential.
Bibliography:ObjectType-Article-2
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ISSN:1471-0056
1471-0064
DOI:10.1038/nrg2950