ReviewHuman genetics2012
The role of phenotype in gene discovery in the whole genome sequencing era.
Review in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Molecular genetic evidence for overlap between general cognitive ability and risk for schizophrenia: a report from the Cognitive Genomics consorTium (COGENT).Molecular psychiatry · 2014Pooled it
- Common and rare variant genetic contributions in African Americans with autism.medRxiv : the preprint server for health sciences · 2025Article
- Causal Association Between Genetically Predicted Circulating Metabolites and Pressure Ulcers: A Two-Sample Mendelian Randomization Study.Journal of inflammation research · 2025Article
- A chromosome-level genome assembly of the Asian house martin implies potential genes associated with the feathered-foot trait.G3 (Bethesda, Md.) · 2024Article
- Genome-wide analysis identifies a novel LINC-PINT splice variant associated with vascular amyloid pathology in Alzheimer's disease.Acta neuropathologica communications · 2021Article
- Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population.European journal of human genetics : EJHG · 2017Article
- Biomechanisms of Comorbidity: Reviewing Integrative Analyses of Multi-omics Datasets and Electronic Health Records.Yearbook of medical informatics · 2016Review
- Expanding the phenotype half of the genotype-phenotype space.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT families.Cancer medicine · 2015Article
- Social responsiveness, an autism endophenotype: genomewide significant linkage to two regions on chromosome 8.The American journal of psychiatry · 2015Article
- Cardiac autonomic regulation in autism and Fragile X syndrome: a review.Psychological bulletin · 2015Review
- Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants.The application of clinical genetics · 2014Review
- Nature and nurture of human pain.Scientifica · 2013Review
- Study designs and methods post genome-wide association studies.Human genetics · 2012Article
Corrections and comments
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1 author.
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Abstract
As whole genome sequence becomes a routine component of gene discovery studies in humans, we will have an exhaustive catalog of genetic variation and the challenge becomes understanding the phenotypic consequences of these variants. Statistical genetic methods and analytical approaches that are concerned with optimizing phenotypes for gene discovery for complex traits offer two general categories of advantages. They may increase power to localize genes of interest and also aid in interpreting associations between genetic variants and disease outcomes by suggesting potential mechanisms and pathways through which genes may affect outcomes. Such phenotype optimization approaches include use of allied phenotypes such as symptoms or ages of onset to reduce genetic heterogeneity within a set of cases, study of quantitative risk factors or endophenotypes, joint analyses of related phenotypes, and derivation of new phenotypes designed to extract independent measures underlying the correlations among a set of related phenotypes through approaches such as principal components. New opportunities are also presented by technological advances that permit efficient collection of hundreds or thousands of phenotypes on an individual, including phenotypes more proximal to the level of gene action such as levels of gene expression, microRNAs, or metabolic and proteomic profiles.
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