ReviewHuman genetics2016
Novel bioinformatic developments for exome sequencing.
Review in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed.
- Pithos - a scalable and secure data container for FAIR-compliant research data management in life sciences.Journal of integrative bioinformatics · 2026Article
- DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.Nucleic acids research · 2022Article
- Clinical exome sequencing-Mistakes and caveats.Human mutation · 2022Review
- Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system-trends observed from a single genetic unit.Journal of orthopaedic surgery and research · 2022Article
- InnovativeFrontiers in genetics · 2022Review
- Article
- Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants.Human genetics · 2021Article
- Bioinformatics Analysis Revealed Novel 3'UTR Variants Associated with Intellectual Disability.Genes · 2020Article
- A survey of RNA viruses in mosquitoes from Mozambique reveals novel genetic lineages of flaviviruses and phenuiviruses, as well as frequent flavivirus-like viral DNA forms in Mansonia.BMC microbiology · 2020Article
- Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics.Journal of clinical medicine · 2020Review
- Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.International journal of molecular sciences · 2019Review
- Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data.BMC bioinformatics · 2019Article
- MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases.Human mutation · 2018Article
- Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana.American journal of human genetics · 2018Article
- A machine learning model to determine the accuracy of variant calls in capture-based next generation sequencing.BMC genomics · 2018Article
- Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.Human mutation · 2017Article
- Big Data Analytics for Genomic Medicine.International journal of molecular sciences · 2017Review
- Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.Wellcome open research · 2016Article
- OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.Scientific reports · 2016Article
- Integrating next-generation sequencing into clinical oncology: strategies, promises and pitfalls.ESMO open · 2016Review
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
No grant is acknowledged in the PubMed record.
Abstract
With the widespread adoption of next generation sequencing technologies by the genetics community and the rapid decrease in costs per base, exome sequencing has become a standard within the repertoire of genetic experiments for both research and diagnostics. Although bioinformatics now offers standard solutions for the analysis of exome sequencing data, many challenges still remain; especially the increasing scale at which exome data are now being generated has given rise to novel challenges in how to efficiently store, analyze and interpret exome data of this magnitude. In this review we discuss some of the recent developments in bioinformatics for exome sequencing and the directions that this is taking us to. With these developments, exome sequencing is paving the way for the next big challenge, the application of whole genome sequencing.
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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.