ReviewAnnual review of medicine2012
Human genome sequencing in health and disease.
Review in Annual review of medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 215 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.
Genomic Sequencing for Childhood Risk and Newborn Illness (The BabySeq Project)
The China Neonatal Genomes Project
Who cites it
215 citing papers in PubMed, 2 syntheses or guidelines pooled it, 491 citations in OpenAlex.
- A theory-informed systematic review of clinicians' genetic testing practices.European journal of human genetics : EJHG · 2018Pooled it
- Targeted Sequencing and Meta-Analysis of Preterm Birth.PloS one · 2016Pooled it
- Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study.Contemporary clinical trials · 2019Trial
- The BabySeq project: implementing genomic sequencing in newborns.BMC pediatrics · 2018Trial
- Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes.Contemporary clinical trials · 2014Trial
- DirectASRM: uncovering allele-specific post-transcriptional RNA modifications through direct RNA sequencing.Bioinformatics (Oxford, England) · 2026Article
- Deciphering resistance mechanisms to auxin-inducible protein degradation in mammalian cells.The Journal of biological chemistry · 2026Article
- Preimplantation genetic testing for polygenic diseases: A novel paradigm in embryo selection.Biochemistry and biophysics reports · 2026Review
- Transformative Applications and Innovations in Next-Generation Sequencing Data Analysis.Journal of applied genetics · 2026Review
- The Current Use and Future Perspectives of Biosimilars in Pediatric Healthcare: A Narrative Review.Health science reports · 2026Article
- Whole-transcriptome identification of deleterious variants in candidate genes linked to bovine paratuberculosis.Scientific reports · 2026Article
- Genetic Testing for Malignant Hyperthermia Susceptibility-Threading the Needle in the Haystack.Genes · 2025Review
- Deciphering acquired resistance mechanisms to sustained auxin-inducible protein degradation in cells and mice.bioRxiv : the preprint server for biology · 2025Article
- The Platinum Pedigree: a long-read benchmark for genetic variants.Nature methods · 2025Article
- Article
- Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.BMC medical genomics · 2024Article
- Long-term monitoring of ultratrace nucleic acids using tetrahedral nanostructure-based NgAgo on wearable microneedles.Nature communications · 2024Article
- Genomic insights and prognostic significance of novel biomarkers in pancreatic ductal adenocarcinoma: A comprehensive analysis.Biochemistry and biophysics reports · 2024Article
- Personalized medicine and nutrition in hepatology for preventing chronic liver disease in Mexico.Frontiers in nutrition · 2024Review
- Article
155 more citing papers are in PubMed but not listed here.
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 at 2 institutions in 1 country.
Funding
Abstract
Following the "finished," euchromatic, haploid human reference genome sequence, the rapid development of novel, faster, and cheaper sequencing technologies is making possible the era of personalized human genomics. Personal diploid human genome sequences have been generated, and each has contributed to our better understanding of variation in the human genome. We have consequently begun to appreciate the vastness of individual genetic variation from single nucleotide to structural variants. Translation of genome-scale variation into medically useful information is, however, in its infancy. This review summarizes the initial steps undertaken in clinical implementation of personal genome information, and describes the application of whole-genome and exome sequencing to identify the cause of genetic diseases and to suggest adjuvant therapies. Better analysis tools and a deeper understanding of the biology of our genome are necessary in order to decipher, interpret, and optimize clinical utility of what the variation in the human genome can teach us. Personal genome sequencing may eventually become an instrument of common medical practice, providing information that assists in the formulation of a differential diagnosis. We outline herein some of the remaining challenges.
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.