ReviewHuman molecular genetics2012
Exome sequencing and complex disease: practical aspects of rare variant association studies.
Review in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 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
76 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Gene × smoking interactions on human brain gene expression: finding common mechanisms in adolescents and adults.Journal of child psychology and psychiatry, and allied disciplines · 2013Pooled it
- Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.Genes · 2023Article
- Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations.Nature genetics · 2023Article
- Contribution of Rare and Low-Frequency Variants to Multiple Sclerosis Susceptibility in the Italian Continental Population.Frontiers in genetics · 2021Article
- Exome sequencing study revealed novel susceptibility loci in subarachnoid hemorrhage (SAH).Molecular brain · 2020Article
- Methodological differences can affect sequencing depth with a possible impact on the accuracy of genetic diagnosis.Genetics and molecular biology · 2020Article
- VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects.Bioinformatics (Oxford, England) · 2019Article
- A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing.BMC medical genetics · 2019Article
- Article
- Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.Acta neuropathologica · 2019Article
- The Progress of CRISPR/Cas9-Mediated Gene Editing in Generating Mouse/Zebrafish Models of Human Skeletal Diseases.Computational and structural biotechnology journal · 2019Review
- Identification of rare variants of allergic rhinitis based on whole genome sequencing and gene expression profiling: A preliminary investigation in four families.The World Allergy Organization journal · 2019Article
- Whole exome sequencing for the identification of CYP3A7 variants associated with tacrolimus concentrations in kidney transplant patients.Scientific reports · 2018Article
- Informatics and machine learning to define the phenotype.Expert review of molecular diagnostics · 2018Review
- Reconsidering the causality of TIA1 mutations in ALS.Amyotrophic lateral sclerosis & frontotemporal degeneration · 2018Article
- Novel Variants Identified in Multiple Sclerosis Patients From Southern China.Frontiers in neurology · 2018Article
- Genetics of Spontaneous Intracerebral Hemorrhage.Stroke · 2017Review
- PhredEM: a phred-score-informed genotype-calling approach for next-generation sequencing studies.Genetic epidemiology · 2017Article
- Multiple analyses indicate the specific association of NR1I3, C6 and TNN with low hip BMD risk.Journal of genetics and genomics = Yi chuan xue bao · 2017Article
- A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets.Human genomics · 2017Article
16 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
Genetic association and linkage studies can provide insights into complex disease biology, guiding the development of new diagnostic and therapeutic strategies. Over the past decade, genetic association studies have largely focused on common, easy to measure genetic variants shared between many individuals. These common variants typically have subtle functional consequence and translating the resulting association signals into biological insights can be challenging. In the last few years, exome sequencing has emerged as a cost-effective strategy for extending these studies to include rare coding variants, which often have more marked functional consequences. Here, we provide practical guidance in the design and analysis of complex trait association studies focused on rare, coding variants.
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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.