One pangenome to bind them all The pangenome provides a first glimpse of the scope of human genetic diversity. But its routine adoption into research and clinical practice faces several challenges
and continuous long-read sequencing supplemented with Oxford Nanopore Technologies ultralong sequencing to tile across repetitive sequences and build a near-complete genome through graph assembly. The published genome has one error every 10.5 Mb ; it has since beenHPRC aims to assemble 700 reference-quality haplotypes from 350 individuals at a quality similar to that of the recent T2T assembly, improving representation of genomic and geographic diversity.
The result — two decades after the first draft — is a near-complete human genome reference. This is particularly important for clinical genetics, where the pangenome can produce fewer ambiguous mappings, provide more accurate analyses of copy number variation, and resolve multiallelic regions of high clinical importance locus) that fail to be captured in the existing linear reference.
But routine clinical implementation of a human pangenome reference will require new bioinformatics methods capable of querying and operating on it. Unlike the gapless T2T genome, which has a single haplotype, the technology for querying pangenomes with gapless diploid assemblies remains a work in progress.
And most clinical genetics laboratories are unprepared: going from raw sequencing reads to a short-list of variants of clinical importance involves multiple computational tools maintained by different research groups or organizations, as well as queries to external databases like
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