ArticleG3 (Bethesda, Md.)2014
Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum.
Article in G3 (Bethesda, Md.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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.
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.
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Who cites it
16 citing papers in PubMed.
- Test development, optimization and validation of a WGS pipeline for genetic disorders.BMC medical genomics · 2023Article
- Discovery of genomic variation across a generation.Human molecular genetics · 2021Article
- Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Genome-wide copy number variations in a large cohort of bantu African children.BMC medical genomics · 2021Article
- Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.BMC medical genomics · 2021Article
- Genomic Copy Number Variation Study of Nine Macaca Species Provides New Insights into Their Genetic Divergence, Adaptation, and Biomedical Application.Genome biology and evolution · 2020Article
- Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability.Clinical and experimental pediatrics · 2020Article
- A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.American journal of human genetics · 2018Article
- The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.Cold Spring Harbor perspectives in medicine · 2017Review
- Genome-wide characteristics ofNPJ genomic medicine · 2016Article
- Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.NPJ genomic medicine · 2016Article
- Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.Scientific reports · 2015Article
- A high-resolution copy-number variation resource for clinical and population genetics.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Assembly and diploid architecture of an individual human genome via single-molecule technologies.Nature methods · 2015Article
- A copy number variation map of the human genome.Nature reviews. Genetics · 2015Review
- Whole-genome sequencing of quartet families with autism spectrum disorder.Nature medicine · 2015Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
We observed that current high-throughput sequencing approaches only detected a fraction of the full size-spectrum of insertions, deletions, and copy number variants compared with a previously published, Sanger-sequenced human genome. The sensitivity for detection was the lowest in the 100- to 10,000-bp size range, and at DNA repeats, with copy number gains harder to delineate than losses. We discuss strategies for discovering the full spectrum of genetic variation necessary for disease association studies.
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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.