ArticleHuman mutation2012
Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 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
33 citing papers in PubMed.
- Article
- Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers.Medeniyet medical journal · 2022Article
- Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene.STAR protocols · 2022Article
- Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches.Frontiers in genetics · 2022Article
- Article
- Characterization of the extra copy of TPOX locus with tri-allelic pattern.BMC genetics · 2019Article
- ClinGen's GenomeConnect registry enables patient-centered data sharing.Human mutation · 2018Article
- The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.Human mutation · 2018Article
- Identification of Novel Congenital Heart Disease Candidate Genes Using Chromosome Microarray.Pediatric cardiology · 2018Article
- Semiconductor Sequencing Analysis of Chromosomal Copy Number Variations in Spontaneous Miscarriage.Medical science monitor : international medical journal of experimental and clinical research · 2017Article
- Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involvingMolecular autism · 2017Article
- A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.American journal of human genetics · 2016Article
- Article
- The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges.Frontiers in cardiovascular medicine · 2016Review
- Human genotype-phenotype databases: aims, challenges and opportunities.Nature reviews. Genetics · 2015Review
- Genetic, environmental, and epigenetic factors involved in CAKUT.Nature reviews. Nephrology · 2015Review
- Review
- Capturing phenotypes for precision medicine.Cold Spring Harbor molecular case studies · 2015Article
- Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.Human mutation · 2015Article
- GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge.Human mutation · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Whole-genome analysis, now including whole-genome sequencing, is moving rapidly into the clinical setting, leading to detection of human variation on a broader scale than ever before. Interpreting this information will depend on the availability of thorough and accurate phenotype information, and the ability to curate, store, and access data on genotype-phenotype relationships. This idea has already been demonstrated within the context of chromosomal microarray (CMA) testing. The International Standards for Cytogenomic Arrays (ISCA) Consortium promotes standardization of variant interpretation for this technology through its initiatives, including the formation of a publicly available database housing clinical CMA data. Recognizing that phenotypic data are essential for the interpretation of genomic variants, the ISCA Consortium has developed tools to facilitate the collection of these data and its deposition in a standardized structured format within the ISCA Consortium database. This rich source of phenotypic data can also be used within broader applications such as developing phenotypic profiles of emerging genomic disorders, identification of candidate regions for particular phenotypes, or creation of tools for use in clinical practice. We summarize the ISCA experience as a model for ongoing efforts incorporating phenotype data with genotype data to improve the quality of research and clinical care in human genetics.
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.