ArticleAdvanced science (Weinheim, Baden-Wurttemberg, Germany)2026
A Scalable Framework for Comprehensive Typing of Polymorphic Immune Genes from Long-Read Data.
Article in Advanced science (Weinheim, Baden-Wurttemberg, Germany), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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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
2 citing papers in PubMed.
- A Personalized Haplotype-Resolved Near-Gapless Genome Framework for Somatic Variant Discovery in Hepatocellular Carcinoma.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- FuFiHLA: a tool for full-field HLA typing from long-read data.Bioinformatics (Oxford, England) · 2026Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Long-read sequencing promises to unravel the complexity of polymorphic immune genes including HLA, KIR, IG, and TCR, yet existing tools fall short in accuracy and scope. Here, we present SpecImmune, the first unified computational framework to simultaneously genotype these genes alongside the intricate CYP family from long-read data. Employing an iterative graph-based haplotype reconstruction algorithm, SpecImmune delivers precise diploid assemblies for each locus from diverse data types. Validated on 1019 samples from the 1kGP ONT cohort, 42 PacBio CLR and 9 PacBio HiFi samples from HGSVC, and 47 PacBio HiFi plus 37 ONT samples from HPRC, SpecImmune achieved 98% four-field HLA typing accuracy, surpassing HLA*LA by 11% and SpecHLA by 12%. It also delivers robust KIR and germline IG/TCR genotyping and supports multi-locus CYP allele detection, positioning it among the first integrated long-read solutions across immune gene families. Beyond superior performance, SpecImmune uncovers elevated germline IG/TCR heterozygosity in African populations (
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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.