ReviewThe Journal of molecular diagnostics : JMD2018
Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.
Review in The Journal of molecular diagnostics : JMD, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 218 papers, 2 of them syntheses that pooled it.
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
218 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- AI-guided meta-analysis of non-invasive prenatal testing platforms for trisomy 21 screening: comparative evaluation of cffDNA and fetal cell-based approaches.BMC pregnancy and childbirth · 2026Pooled it
- Deep learning approaches for resolving genomic discrepancies in cancer: a systematic review and clinical perspective.Briefings in bioinformatics · 2025Pooled it
- A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing.Molecular genetics & genomic medicine · 2019Trial
- Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD.Prenatal diagnosis · 2026Article
- AI In Leukemia Diagnostics: Complementing the Pathologist's Role.International journal of laboratory hematology · 2026Review
- Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPD.European journal of human genetics : EJHG · 2026Article
- Critical Questions in Genomic Diagnostics for Veterinary Oncology: What We Need to Know.Veterinary and comparative oncology · 2026Review
- From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.Diagnostics (Basel, Switzerland) · 2026Article
- Mapping the path to clinical implementation of multi-omics.Nature genetics · 2026Review
- Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service.Journal of medical genetics · 2026Article
- Comparing whole-genome sequencing to pulsed-field gel electrophoresis for vancomycin-resistantMicrobiology spectrum · 2026Article
- The critical role of artificial intelligence and bioinformatics in accelerating peptide-based vaccine discovery for tackling global infectious diseases.Briefings in bioinformatics · 2026Review
- Perspectives From an Expert-Guided Discussion on Maximizing the Research Potential of Small Biopsy Tissue.JCO precision oncology · 2026Article
- Integrating HTS and CRISPR/Cas for next-generation nucleic and non-nucleic acid diagnostics.Molecular genetics and genomics : MGG · 2026Review
- The need to strengthen laboratory leadership, systems, and networks to enhance outbreak detection and resilience in Africa: proceedings of a regional workshop.BMC proceedings · 2026Article
- A Novel Approach to Interrogating Whole Genome Sequencing Data to Optimise Clinical Utility.Molecular genetics & genomic medicine · 2026Article
- Probiotics, Psychobiotics, Paraprobiotics, and Postbiotics in Gut-Brain Axis Modulation: Multi-Omics and AI-Driven Precision Nutrition for Cognitive Health.Probiotics and antimicrobial proteins · 2026Review
- Clinician perspectives on patient consent for metagenomic next-generation sequencing of blood samples for the diagnosis of infection in clinical practice.Journal of medical microbiology · 2026Article
- EXaCT-2: an augmented and customizable oncology-focused whole exome sequencing platform.NPJ precision oncology · 2026Article
- Benchmarking of sequencing technologies defines optimal strategies for genetic variants detection in a human genome.Genome biology · 2026Article
158 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bioinformatics pipelines are an integral component of next-generation sequencing (NGS). Processing raw sequence data to detect genomic alterations has significant impact on disease management and patient care. Because of the lack of published guidance, there is currently a high degree of variability in how members of the global molecular genetics and pathology community establish and validate bioinformatics pipelines. Improperly developed, validated, and/or monitored pipelines may generate inaccurate results that may have negative consequences for patient care. To address this unmet need, the Association of Molecular Pathology, with organizational representation from the College of American Pathologists and the American Medical Informatics Association, has developed a set of 17 best practice consensus recommendations for the validation of clinical NGS bioinformatics pipelines. Recommendations include practical guidance for laboratories regarding NGS bioinformatics pipeline design, development, and operation, with additional emphasis on the role of a properly trained and qualified molecular professional to achieve optimal NGS testing quality.
Indexed as
Identifiers
29154853What 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.