ArticleHuman mutation2012
Analysis of DNA sequence variants detected by high-throughput sequencing.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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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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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.
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Who cites it
25 citing papers in PubMed.
- Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.Human genetics · 2024Article
- Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank.BMC biology · 2022Article
- Genetic Epidemiology of Complex Phenotypes.Methods in molecular biology (Clifton, N.J.) · 2021Review
- Evidence That the Etiology of Congenital Hypopituitarism Has a Major Genetic Component but Is Infrequently Monogenic.Frontiers in genetics · 2021Article
- The undiagnosed diseases program: Approach to diagnosis.Translational science of rare diseases · 2020Article
- Findings of a 1303 Korean whole-exome sequencing study.Experimental & molecular medicine · 2017Article
- BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.Clinical genetics · 2017Article
- Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.Molecular genetics and metabolism · 2017Article
- Integrated Genomic Medicine: A Paradigm for Rare Diseases and Beyond.Advances in genetics · 2017Review
- Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Frontiers in medicine · 2017Article
- A comprehensive global genotype-phenotype database for rare diseases.Molecular genetics & genomic medicine · 2017Article
- Clinical Versus Research Sequencing.Cold Spring Harbor perspectives in medicine · 2016Review
- Explorations to improve the completeness of exome sequencing.BMC medical genomics · 2016Article
- Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies.Human genetics · 2016Article
- ATP1A3 Mutation in Adult Rapid-Onset Ataxia.PloS one · 2016Article
- Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity.Ophthalmic genetics · 2016Article
- Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.BMC neurology · 2015Article
- Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.Orphanet journal of rare diseases · 2015Article
- FlyVar: a database for genetic variation in Drosophila melanogaster.Database : the journal of biological databases and curation · 2015Article
- Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.Molecular genetics and metabolism · 2014Article
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Authors and funding
10 authors.
Funding
Abstract
The Undiagnosed Diseases Program at the National Institutes of Health uses high-throughput sequencing (HTS) to diagnose rare and novel diseases. HTS techniques generate large numbers of DNA sequence variants, which must be analyzed and filtered to find candidates for disease causation. Despite the publication of an increasing number of successful exome-based projects, there has been little formal discussion of the analytic steps applied to HTS variant lists. We present the results of our experience with over 30 families for whom HTS sequencing was used in an attempt to find clinical diagnoses. For each family, exome sequence was augmented with high-density SNP-array data. We present a discussion of the theory and practical application of each analytic step and provide example data to illustrate our approach. The article is designed to provide an analytic roadmap for variant analysis, thereby enabling a wide range of researchers and clinical genetics practitioners to perform direct analysis of HTS data for their patients and projects.
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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.