ReviewGenome medicine2017
Genome annotation for clinical genomic diagnostics: strengths and weaknesses.
Review in Genome medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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
24 citing papers in PubMed.
- STXBP1 Syndrome: Biotechnological Advances, Challenges, and Perspectives in Gene Therapy, Experimental Models, and Translational Research.Biotech (Basel (Switzerland)) · 2025Review
- Unveiling Tissue-Specific RNA Landscapes in Mouse Organs During Fasting and Feeding Using Nanopore Direct RNA Sequencing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- DRANetSplicer: A Splice Site Prediction Model Based on Deep Residual Attention Networks.Genes · 2024Article
- Three Rounds of Read Correction Significantly Improve Eukaryotic Protein Detection in ONT Reads.Microorganisms · 2024Article
- Manual correction of genome annotation improved alternative splicing identification of Artemisia annua.Planta · 2023Article
- Evolution of Sequence and Structure of SARS-CoV-2 Spike Protein: A Dynamic Perspective.ACS omega · 2023Review
- Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review.Children (Basel, Switzerland) · 2023Review
- A Pathogenic Variant Reclassified to the PseudogeneInternational journal of molecular sciences · 2023Article
- The Sum of Two Halves May Be Different from the Whole-Effects of Splitting Sequencing Samples Across Lanes.Genes · 2022Article
- Central resources of variant discovery and annotation and its role in precision medicine.Asian biomedicine : research, reviews and news · 2022Review
- Article
- Decoding Transcription Regulatory Mechanisms Associated withmSystems · 2022Article
- Manual Annotation Studio (MAS): a collaborative platform for manual functional annotation of viral and microbial genomes.BMC genomics · 2021Article
- SAUTE: sequence assembly using target enrichment.BMC bioinformatics · 2021Article
- Pan-cancer analysis of transcripts encoding novel open-reading frames (nORFs) and their potential biological functions.NPJ genomic medicine · 2021Article
- Review on the Computational Genome Annotation of Sequences Obtained by Next-Generation Sequencing.Biology · 2020Review
- Genome sequencing in healthcare: understanding the UK general public's views and implications for clinical practice.European journal of human genetics : EJHG · 2020Article
- The future of cystic fibrosis care: a global perspective.The Lancet. Respiratory medicine · 2020Review
- Chromosome-Level Alpaca Reference GenomeFrontiers in genetics · 2019Article
- The loss of SMG1 causes defects in quality control pathways in Physcomitrella patens.Nucleic acids research · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
The Human Genome Project and advances in DNA sequencing technologies have revolutionized the identification of genetic disorders through the use of clinical exome sequencing. However, in a considerable number of patients, the genetic basis remains unclear. As clinicians begin to consider whole-genome sequencing, an understanding of the processes and tools involved and the factors to consider in the annotation of the structure and function of genomic elements that might influence variant identification is crucial. Here, we discuss and illustrate the strengths and weaknesses of approaches for the annotation and classification of important elements of protein-coding genes, other genomic elements such as pseudogenes and the non-coding genome, comparative-genomic approaches for inferring gene function, and new technologies for aiding genome annotation, as a practical guide for clinicians when considering pathogenic sequence variation. Complete and accurate annotation of structure and function of genome features has the potential to reduce both false-negative (from missing annotation) and false-positive (from incorrect annotation) errors in causal variant identification in exome and genome sequences. Re-analysis of unsolved cases will be necessary as newer technology improves genome annotation, potentially improving the rate of diagnosis.
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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.