ArticleCell reports methods2025
SpliPath enhances disease gene discovery in case-control analyses of rare splice-altering genetic variants.
Article in Cell reports methods, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We developed SpliPath as a generalizable framework to discover disease associations mediated by rare variants that induce experimentally supported mRNA splicing defects. Our approach integrates components of burden tests (BTs), traditional splicing quantitative trait locus (sQTL) analyses, and sequence-to-function AI models (SpliceAI and Pangolin). Central to the workings of SpliPath is our concept of collapsed rare variant splicing QTL (crsQTL). crsQTL groups rare variants that are predicted to alter splicing in the same way, specifically by linking them to shared splice junctions observed in independent (unpaired) RNA sequencing (RNA-seq) datasets. We demonstrate the utility of SpliPath through applications in amyotrophic lateral sclerosis (ALS). Through this, we showcase scenarios where SpliPath detects genetic associations that cannot be recovered by more simplistic combinations of BT and SpliceAI. We also nominate crsQTL for splice defects detected in large-scale analyses of ALS patient tissue.
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.