Corpus 1,275 assessed · 1,176 scored · 644 reproduced ≥75 · 170 flagged ·∅ 74.1/100

Publications 4 Datasets 392.5k Experiments 4.7k

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4 matching publication(s)

Publication	Journal	Year	Score	Verdict
OptiType: precision HLA typing from next-generation sequencing data. PMID 25143287	Bioinformatics	2014	95	L1 95/100
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection. PMID 41056017	—	2025	67	L1 67/100
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findi PMID 39039281	Nat Genet	2024	87	L1 87/100
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. PMID 36414417	—	2023	85	L1 85/100

OptiType: precision HLA typing from next-generation sequencing data.

PMID 25143287 · Bioinformatics · 2014

L1 95/100

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.

PMID 41056017 · · 2025

L1 67/100

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findi

PMID 39039281 · Nat Genet · 2024

L1 87/100

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.

PMID 36414417 · · 2023

L1 85/100