Evidence map›Paper›PMID 42085485›Full record

ArticleBioinformatics (Oxford, England)2026

FuFiHLA: a tool for full-field HLA typing from long-read data.

Jingqing Hu, Qian Qin, Heng Li, Ying Zhou

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Jingqing HuDepartment of Data Science, Dana-Farber Cancer Institute, Boston, MA 02115, United States.ORCID 0009-0008-2880-9940
Qian QinDepartment of Data Science, Dana-Farber Cancer Institute, Boston, MA 02115, United States.
Heng LiDepartment of Data Science, Dana-Farber Cancer Institute, Boston, MA 02115, United States.ORCID 0000-0003-4874-2874
Ying ZhouDepartment of Data Science, Dana-Farber Cancer Institute, Boston, MA 02115, United States.ORCID 0000-0002-8107-3927

Funding

The WashU-UCSC-EBI Human Genome Reference Center."U41HG010972 · NHGRI · WASHINGTON UNIVERSITY · PI Ting Wang · 2019 to 2026
$24.9M
Advanced computational methods in analyzing high-throughput sequencing dataR01HG010040 · NHGRI · DANA-FARBER CANCER INST · PI Heng Li · 2018 to 2026
$3.7M
Tools for comprehensive variant characterization using the pangenomeU01HG013748 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI LI, HENG, MARSCHALL, TOBIAS · 2024 to 2024
$1.7M
Calling germline and mosaic variants from long genomic and RNA-seq readsR01HG014175 · NHGRI · DANA-FARBER CANCER INST · PI Heng Li · 2025 to 2026
$1.0M
NHGRI NIH HHS R01 HG010040NHGRI NIH HHS R01 HG014175NHGRI NIH HHS U01 HG013748NHGRI NIH HHS U41 HG010972US National Institute of Health R01HG010040US National Institute of Health R01HG014175US National Institute of Health U01HG013748US National Institute of Health U24CA294203US National Institute of Health U41HG010972
6 · The paper itself

Abstract

motivationAllele typing for Human Leukocyte Antigen (HLA) genes has many important clinical applications. Popular short-read typing can only accurately distinguish alleles at the coding sequence level, which potentially limit our understanding of the effect of variants in non-coding region. Long read data has been proved to be useful in typing HLA alleles in full resolution, but only a few tools are publicly available and with significant limitations in practical application.

resultsWe developed FuFiHLA, a lightweight open-source software, to type HLA alleles. Currently it supports typing alleles of six HLA genes (HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQA1, and HLA-DQB1) from long reads. Evaluation using 233 PacBio HiFi WGS samples from HPRC shows that FuFiHLA achieves 99.6% accuracy in the full field allele typing and QV as 51.8 for consensus allele sequence construction. Additional testing on four Nanopore R10 reads demonstrates slightly reduced accuracy in the fourth field. AVAILABILITY: FuFiHLA is available at https://github.com/jingqing-hu/FuFiHLA under MIT License.

Indexed as

Histocompatibility TestingHLA AntigensSoftwareAllelesHigh-Throughput Nucleotide SequencingHumansSequence Analysis, DNAHLA Antigens

Identifiers

PMID42085485
PMCPMC13221240

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LicenceCC BY
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Registered trials

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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.