novel variant cohort
Evidence from:
primary |
all sources
Related entities (1)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| novel variant | associated_with | PAU | — | 1 |
Mentioned in (10)
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)
- 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)
- Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
- ACMG clinical laboratory standards for next-generation sequencing. (2013)
- A framework for variation discovery and genotyping using next-generation DNA sequencing data. (2011)
- Integrative analysis of the melanoma transcriptome. (2010)
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 | — | — |