SIFT: Syncmer-Informed Selection of Haplotypes for T2T Imputation

Genome patching improves the completeness of fragmented assemblies by filling unresolved gaps with sequences from reference genomes. Pangenome panels provide diverse candidate haplotypes for this task, but identifying suitable references efficiently becomes increasingly challenging as these panels grow. We present SIFT, a compressed indexing method for selecting reference haplotypes for genome patching with ImpuT2T. SIFT combines closed-syncmer parsing, phrase-level indexing, and pseudo-maximal exact match (pseudo-MEM) queries. Closed syncmers provide a context-independent parsing rule with bounded distances between consecutive selected positions, enabling consistent parsing of reference and query sequences. We demonstrate that two closed syncmers determine the distance at which they can occur consecutively in any string, so that equal substrings of two parses represent identical sequences and no gap sequence need be stored. SIFT indexes the reference parse and its reverse using run-length compressed suffix arrays and adapts the Boyer-Moore-Li search procedure to identify pseudo-MEMs between the reference parse and query parse. It then aggregates matching evidence to identify candidate reference haplotypes for downstream patching. This framework connects compressed sequence indexing with haplotype selection and provides a basis for querying large reference panels at the phrase level. SIFT is publicly available under the GNU license at https://github.com/EddieFerro/SIFT.

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Publication Details

Journal
bioRxiv (Cold Spring Harbor Laboratory)
Published
2026-11-11
DOI
https://doi.org/10.64898/2026.11.09.765394
Primary Topic
Algorithms and Data Compression
Type
preprint
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preprint

SIFT: Syncmer-Informed Selection of Haplotypes for T2T Imputation

Mao-Jan Lin, Ben Langmead, Travis Gagie, Christina Boucher et al.
bioRxiv (Cold Spring Harbor Laboratory)
Algorithms and Data Compression
preprint

SIFT: Syncmer-Informed Selection of Haplotypes for T2T Imputation

Mao-Jan Lin, Ben Langmead, Travis Gagie, Christina Boucher, Rahul Varki, Eddie Ferro
preprint en

Abstract

Genome patching improves the completeness of fragmented assemblies by filling unresolved gaps with sequences from reference genomes. Pangenome panels provide diverse candidate haplotypes for this task, but identifying suitable references efficiently becomes increasingly challenging as these panels grow. We present SIFT, a compressed indexing method for selecting reference haplotypes for genome patching with ImpuT2T. SIFT combines closed-syncmer parsing, phrase-level indexing, and pseudo-maximal exact match (pseudo-MEM) queries. Closed syncmers provide a context-independent parsing rule with bounded distances between consecutive selected positions, enabling consistent parsing of reference and query sequences. We demonstrate that two closed syncmers determine the distance at which they can occur consecutively in any string, so that equal substrings of two parses represent identical sequences and no gap sequence need be stored. SIFT indexes the reference parse and its reverse using run-length compressed suffix arrays and adapts the Boyer-Moore-Li search procedure to identify pseudo-MEMs between the reference parse and query parse. It then aggregates matching evidence to identify candidate reference haplotypes for downstream patching. This framework connects compressed sequence indexing with haplotype selection and provides a basis for querying large reference panels at the phrase level. SIFT is publicly available under the GNU license at https://github.com/EddieFerro/SIFT.

bioRxiv (Cold Spring Harbor Laboratory)
Johns Hopkins University (US), University of Florida (US), Universidad Diego Portales (CL)
Algorithms and Data Compression
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SIFT: Syncmer-Informed Selection of Haplotypes for T2T Imputation — Mao-Jan Lin, Ben Langmead, et al. · bioRxiv (Cold Spring Harbor Laboratory) (2026) | TGRS Research Map | TGRS