ReviewAnnual review of genomics and human genetics2020
Progress, Challenges, and Surprises in Annotating the Human Genome.
Review in Annual review of genomics and human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis 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
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Brain Proteomic Responses to Glucocorticoids and Their Relationship With Transcriptome: A Systematic Meta-Analysis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Pooled it
- Augmenting transcriptome annotations through the lens of splicing evolution.Genome research · 2026Article
- Human Genome Safe Harbor Sites: A Comprehensive Review of Criteria, Discovery, Features, and Applications.Cells · 2026Review
- Evaluating computational tools for protein-coding sequence detection: Are they up to the task?RNA (New York, N.Y.) · 2025Article
- Article
- HiC4D-SPOT: a spatiotemporal outlier detection tool for Hi-C data.Briefings in bioinformatics · 2025Article
- A conceptual framework for human-AI collaborative genome annotation.Briefings in bioinformatics · 2025Review
- The state of the human coding gene catalogues.Database : the journal of biological databases and curation · 2025Article
- Pharmacogenomics Tools for Precision Public Health and Lessons for Low- and Middle-Income Countries: A Scoping Review.Pharmacogenomics and personalized medicine · 2025Review
- Genome-wide functional annotation of variants: a systematic review of state-of-the-art tools, techniques and resources.Frontiers in pharmacology · 2025Review
- Long noncoding RNAs in ubiquitination, protein degradation, and human diseases.Biochimica et biophysica acta. Gene regulatory mechanisms · 2024Review
- Advancements in long non-coding RNA-based therapies for cancer: targeting, delivery, and clinical implications.Medical oncology (Northwood, London, England) · 2024Review
- Hybrid assembly and comparative genomics unveil insights into the evolution and biology of the red-legged partridge.Scientific reports · 2024Article
- Updating mRNA variants of the human RSK4 gene and their expression in different stressed situations.Heliyon · 2024Article
- New Challenges for Anatomists in the Era of Omics.Diagnostics (Basel, Switzerland) · 2023Review
- A novel hybrid model to predict concomitant diseases for Hashimoto's thyroiditis.BMC bioinformatics · 2023Article
- High-Throughput Identification, Modeling, and Analysis of Cancer Driver Genes In Vivo.Cold Spring Harbor perspectives in medicine · 2023Review
- Unified access to up-to-date residue-level annotations from UniProtKB and other biological databases for PDB data.Scientific data · 2023Article
- CeGAL: Redefining a Widespread Fungal-Specific Transcription Factor Family Using an In Silico Error-Tracking Approach.Journal of fungi (Basel, Switzerland) · 2023Article
- An informatic workflow for the enhanced annotation of excretory/secretory proteins ofComputational and structural biotechnology journal · 2023Article
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
Abstract
Our understanding of the human genome has continuously expanded since its draft publication in 2001. Over the years, novel assays have allowed us to progressively overlay layers of knowledge above the raw sequence of A's, T's, G's, and C's. The reference human genome sequence is now a complex knowledge base maintained under the shared stewardship of multiple specialist communities. Its complexity stems from the fact that it is simultaneously a template for transcription, a record of evolution, a vehicle for genetics, and a functional molecule. In short, the human genome serves as a frame of reference at the intersection of a diversity of scientific fields. In recent years, the progressive fall in sequencing costs has given increasing importance to the quality of the human reference genome, as hundreds of thousands of individuals are being sequenced yearly, often for clinical applications. Also, novel sequencing-based assays shed light on novel functions of the genome, especially with respect to gene expression regulation. Keeping the human genome annotation up to date and accurate is therefore an ongoing partnership between reference annotation projects and the greater community worldwide.
Indexed as
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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.