ArticleGenetics in medicine : official journal of the American College of Medical Genetics2011
Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.Molecular diagnosis & therapy · 2017Article
- Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project.European journal of human genetics : EJHG · 2017Article
- Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.Genomics data · 2015Article
- Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.BMC genomics · 2015Article
- Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.Nature communications · 2014Article
- Changing genetic paradigms: creating next-generation genetic databases as tools to understand the emerging complexities of genotype/phenotype relationships.Human genomics · 2014Article
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- Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period.Journal of clinical bioinformatics · 2013Article
- Racial differences in B cell receptor signaling pathway activation.Journal of translational medicine · 2012Article
- Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.Hearing research · 2012Review
- NGS catalog: A database of next generation sequencing studies in humans.Human mutation · 2012Article
- Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.Genome medicine · 2012Article
- Taxonomizing, sizing, and overcoming the incidentalome.Genetics in medicine : official journal of the American College of Medical Genetics · 2012Article
- Considerations for clinical read alignment and mutational profiling using next-generation sequencing.F1000Research · 2012Article
- Clinical implications of human population differences in genome-wide rates of functional genotypes.Frontiers in genetics · 2012Article
- Annotating individual human genomes.Genomics · 2011Review
- Whole genome sequences of a male and female supercentenarian, ages greater than 114 years.Frontiers in genetics · 2011Article
- Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants.Journal of the American Medical Informatics Association : JAMIAArticle
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
Abstract
backgroundUnderstanding how sequence variants within healthy genomes are distributed with respect to ethnicity and disease-implicated genes is an essential first step toward establishing baselines for personalized genomic medicine.
methodsIn this study, we present an analysis of 10 genomes from healthy individuals of various ethnicities, produced using six different sequencing technologies. In total, these genomes contain more than 34 million single-nucleotide variants.
resultsWe have analyzed these variants from a clinical perspective, assaying the influence of sequencing technology and ethnicity on prognosis. We have also examined the utility of OMIM and the disease-gene literature for determining the impact of rare, personal variants on an individual's health.
conclusionsOur analyses demonstrate that clinical prognoses are complicated by sequencing platform-specific errors and ethnicity. We show that disease-causing alleles are globally distributed along ethnic lines, with alleles known to be disease causing in Eurasians being significantly more likely to be homozygous in Africans.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.