Behera, S.
, LeFaive, J.
, Orchard, P.
, Zook, J.
and Sedlazeck, F.
(2023),
FixItFelix: improving genomic analysis by fixing reference errors, Genome Biology, [online], https://doi.org/10.1186/s13059-023-02863-7, https://tsapps.nist.gov/publication/get_pdf.cfm?pub_id=935176
(Accessed October 2, 2025)
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FixItFelix: improving genomic analysis by fixing reference errors
Published
Author(s)
Sairam Behera, Jonathan LeFaive, Peter Orchard, , Fritz Sedlazeck
Abstract
The current version of the human reference genome, GRCh38, contains a number of errors including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions. These errors impact the variant calling of 33 protein-coding genes, including 12 with medical relevance. Here, we present FixItFelix, an efficient remapping approach, together with a modified version of the GRCh38 reference genome that improves the subsequent analysis across these genes within minutes for an existing alignment file while maintaining the same coordinates. We showcase these improvements over multi-ethnic control samples, demonstrating improvements for population variant calling as well as eQTL studies.Citation
Genome Biology
Volume
24
Pub Type
Journals
Download Paper
Keywords
reference genome, variant calling, benchmark
Citation
Issues
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Created February 21, 2023, Updated February 22, 2023