ArticleGenome biology2017
Human disease genomics: from variants to biology.
Article in Genome biology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide association study meta-analysis identifies five new loci for systemic lupus erythematosus.Arthritis research & therapy · 2018Pooled it
- Tissue-aware interpretation of genetic variants advances the etiology of rare diseases.Molecular systems biology · 2024Article
- Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries.Cell reports methods · 2024Article
- Predicting molecular mechanisms of hereditary diseases by using their tissue-selective manifestation.Molecular systems biology · 2023Article
- A polycistronic transgene design for combinatorial genetic perturbations from a single transcript in Drosophila.PLoS genetics · 2023Article
- Pathogenic variation types in human genes relate to diseases through Pfam and InterPro mapping.Frontiers in molecular biosciences · 2022Article
- The Role of Neurod Genes in Brain Development, Function, and Disease.Frontiers in molecular neuroscience · 2021Article
- The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.Molecular diagnosis & therapy · 2020Review
- Defeating the trypanosomatid trio: proteomics of the protozoan parasites causing neglected tropical diseases.RSC medicinal chemistry · 2020Review
- Methodological differences can affect sequencing depth with a possible impact on the accuracy of genetic diagnosis.Genetics and molecular biology · 2020Article
- Precision Medicine in Non Communicable Diseases.International journal of molecular and cellular medicine · 2019Review
- Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.Scientific reports · 2018Article
- Myofibrillar myopathy in the genomic context.Journal of applied genetics · 2018Review
- Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.Journal of clinical immunology · 2018Article
- Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.Human genomics · 2018Article
- Genetic testing for exercise prescription and injury prevention: AIS-Athlome consortium-FIMS joint statement.BMC genomics · 2017Article
- Preface: genomics and biology of exercise is undergoing a paradigm shift.BMC genomics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
We summarize the remarkable progress that has been made in the identification and functional characterization of DNA sequence variants associated with disease.
Indexed as
Identifiers
What OpenQuestion holds
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.