ArticleGenomics2011
Targeted sequencing of the human X chromosome exome.
Article in Genomics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed.
- A Novel Mutation Of ThePharmacogenomics and personalized medicine · 2019Article
- Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.BMC ophthalmology · 2017Article
- Target enrichment using parallel nanoliter quantitative PCR amplification.BMC genomics · 2014Article
- Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichment.PloS one · 2014Article
- Genome wide allele frequency fingerprints (GWAFFs) of populations via genotyping by sequencing.PloS one · 2013Article
- Multiplex target capture with double-stranded DNA probes.Genome medicine · 2013Article
- Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.Human molecular genetics · 2012Article
- Accurate variant detection across non-amplified and whole genome amplified DNA using targeted next generation sequencing.BMC genomics · 2012Article
- Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.Journal of medical genetics · 2012Article
- On the future of genetic risk assessment.Journal of community genetics · 2012Article
- Fulcrum: condensing redundant reads from high-throughput sequencing studies.Bioinformatics (Oxford, England) · 2012Article
- Targeted enrichment of genomic DNA regions for next-generation sequencing.Briefings in functional genomics · 2011Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
We used a RainDance Technologies (RDT) expanded content library to enrich the human X chromosome exome (2.5 Mb) from 26 male samples followed by Illumina sequencing. Our multiplex primer library covered 98.05% of the human X chromosome exome in a single tube with 11,845 different PCR amplicons. Illumina sequencing of 24 male samples showed coverage for 97% of the targeted sequences. Sequence from 2 HapMap samples confirmed missing data rates of 2-3% at sites successfully typed by the HapMap project, with an accuracy of at least ~99.5% as compared to reported HapMap genotypes. Our demonstration that a RDT expanded content library can efficiently enrich and enable the routine sequencing of the human X chromosome exome suggests a wide variety of potential research and clinical applications for this platform.
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.