[HTML][HTML] Predicting the impact of rare variants on RNA splicing in CAGI6

J Lord, CJ Oquendo, HA Wai, AGL Douglas… - Human Genetics, 2024 - Springer
Variants which disrupt splicing are a frequent cause of rare disease that have been under-
ascertained clinically. Accurate and efficient methods to predict a variant's impact on splicing …

Predicting the impact of rare variants on RNA splicing in CAGI6

J Lord, CJ Oquendo, HA Wai, AGL Douglas… - Human …, 2024 - eprints.whiterose.ac.uk
Variants which disrupt splicing are a frequent cause of rare disease that have been under-
ascertained clinically. Accurate and efficient methods to predict a variant's impact on splicing …

Predicting the impact of rare variants on RNA splicing in CAGI6

J Lord, CJ Oquendo, HA Wai, AG Douglas… - Human …, 2024 - hal.science
Variants which disrupt splicing are a frequent cause of rare disease that have been under-
ascertained clinically. Accurate and efficient methods to predict a variant's impact on splicing …

Predicting the impact of rare variants on RNA splicing in CAGI6

J Lord, CJ Oquendo, HA Wai, AGL Douglas… - Human …, 2024 - research.regionh.dk
Variants which disrupt splicing are a frequent cause of rare disease that have been under-
ascertained clinically. Accurate and efficient methods to predict a variant's impact on splicing …

Predicting the impact of rare variants on RNA splicing in CAGI6

J Lord, C Jaramillo Oquendo, HA Wai… - Human …, 2024 - eprints.soton.ac.uk
Background: variants which disrupt splicing are a frequent cause of rare disease that have
been under-ascertained clinically. Accurate and efficient methods to predict a variant's …

Predicting the impact of rare variants on RNA splicing in CAGI6

J Lord, CJ Oquendo, HA Wai, AGL Douglas… - Human … - pubmed.ncbi.nlm.nih.gov
Variants which disrupt splicing are a frequent cause of rare disease that have been under-
ascertained clinically. Accurate and efficient methods to predict a variant's impact on splicing …

Predicting the impact of rare variants on RNA splicing in CAGI6

J Lord, CJ Oquendo, HA Wai, AGL Douglas… - bioRxiv, 2023 - biorxiv.org
Background Variants which disrupt splicing are a frequent cause of rare disease that have
been under-ascertained clinically. Accurate and efficient methods to predict a variant's …

Predicting the impact of rare variants on RNA splicing in CAGI6.

J Lord, CJ Oquendo, HA Wai, AGL Douglas… - Human …, 2024 - europepmc.org
Variants which disrupt splicing are a frequent cause of rare disease that have been under-
ascertained clinically. Accurate and efficient methods to predict a variant's impact on splicing …

Predicting the impact of rare variants on RNA splicing in CAGI6

J Lord, CJ Oquendo, HA Wai, AG Douglas, DJ Bunyan… - 2023 - europepmc.org
Background Variants which disrupt splicing are a frequent cause of rare disease that have
been under-ascertained clinically. Accurate and efficient methods to predict a variant's …

Predicting the impact of rare variants on RNA splicing in CAGI6

J Lord, CJ Oquendo, HA Wai, AGL Douglas… - bioRxiv, 2023 - biorxiv.org
Background Variants which disrupt splicing are a frequent cause of rare disease that have
been under-ascertained clinically. Accurate and efficient methods to predict a variant's …