TTN - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
nocite: |
@burkhardtClinicalRelevanceMolecular2022,
TOC
Relevance tier by entity
include:tables/table1_TTN.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity |
source |
frequency (%) |
| BL |
GAMBL genomes+capture |
28.64 |
| BL |
Thomas cohort |
NA |
| BL |
Panea cohort |
NA |
Mutation pattern and selective pressure estimates
include:tables/dnds_TTN.md
TTN Hotspots
| Chromosome |
Coordinate (hg19) |
ref>alt |
HGVSp |
| chr2 |
179638249 |
C>T |
E2512K |
include:tables/browser_TTN.md
Expression
include:tables/mermaid_TTN.md
References