novel variant cohort
Evidence from:
primary |
all sources
Related entities (7)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| novel variant | associated_with | Asian | — | 1 |
| novel variant | associated_with | BMI | — | 1 |
| novel variant | associated_with | EAs | — | 1 |
| novel variant | risk_factor_for | nicotine | — | 1 |
| novel variant | associated_with | Oceania | — | 1 |
| novel variant | associated_with | PAU | — | 1 |
| novel variant | associated_with | South Asian | — | 1 |
Mentioned in (18)
Papers in which this entity is mentioned.
- CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
- A harmonized public resource of deeply sequenced diverse human genomes. (2024)
- Genome-wide meta-analysis of problematic alcohol use in 435,563 individuals yields insights into biology and relationships with other traits. (2020)
- Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype. (2019)
- The GenomeAsia 100K Project enables genetic discoveries across Asia. (2019)
- Mapping and phasing of structural variation in patient genomes using nanopore sequencing. (2017)
- A method to reduce ancestry related germline false positives in tumor only somatic variant calling. (2017)
- A global reference for human genetic variation. (2015)
- A global reference for human genetic variation. (2015)
- Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
- ACMG clinical laboratory standards for next-generation sequencing. (2013)
- A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. (2011)
- A framework for variation discovery and genotyping using next-generation DNA sequencing data. (2011)
- Integrative analysis of the melanoma transcriptome. (2010)
- Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (2010)
- The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans. (2009)
- Meta-analysis in genome-wide association studies. (2009)
- FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. (2006)
Merged raw entities (8)
All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| novel variants | variant | 9 | 12 |
| novel variant | variant | 6 | 6 |
| newly identified variants | variant | 2 | 2 |
| novel snp | variant | 2 | 2 |
| 18 newly discovered loci | cohort | — | — |
| newly discovered variants | cohort | — | — |
| novel variant | cohort | — | — |
| novel variants | cohort | — | — |