Y-mer: A k-mer based method for determining human Y chromosome haplogroups from ultra-low sequencing depth data Article Swipe
Tarmo Puurand
,
Märt Möls
,
Lauris Kaplinski
,
Kadri Maal
,
Kaarel Krjutškov
,
Andres Salumets
,
Toomas Kivisild
,
Maido Remm
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.21203/rs.3.rs-5042960/v2
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.21203/rs.3.rs-5042960/v2
Determining genetic ancestry of an individual is challenging from poorly preserved or mixed samples that permit only ultra-low coverage sequence (ulcWGS) depth < 0.1x to be gained at target loci. Leveraging the recent advances in telomere-to-telomere sequencing of the whole genomes with long reads we develop a new k-mer based method Y-mer and show how information from hundreds of thousands of k-mers in distance-based models enables accurate inference of chrY haplogroup from WGS sequence at depth less than 0.01x without additional PCR or capture. We test the performance of Y-mer on ancient DNA and prenatal screening data showing its potential for genetic ancestry inference for cell-free, forensic and ancient DNA research from short read WGS data.
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- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.21203/rs.3.rs-5042960/v2
- OA Status
- gold
- References
- 34
- Related Works
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- OpenAlex ID
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All OpenAlex metadata
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- DOI
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https://doi.org/10.21203/rs.3.rs-5042960/v2Digital Object Identifier
- Title
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Y-mer: A k-mer based method for determining human Y chromosome haplogroups from ultra-low sequencing depth dataWork title
- Type
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preprintOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
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2025-06-16Full publication date if available
- Authors
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Tarmo Puurand, Märt Möls, Lauris Kaplinski, Kadri Maal, Kaarel Krjutškov, Andres Salumets, Toomas Kivisild, Maido RemmList of authors in order
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https://doi.org/10.21203/rs.3.rs-5042960/v2Publisher landing page
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goldOpen access status per OpenAlex
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https://doi.org/10.21203/rs.3.rs-5042960/v2Direct OA link when available
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Haplogroup, Chromosome, Y chromosome, Genetics, Biology, Haplotype, Gene, GenotypeTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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34Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| publication_date | 2025-06-16 |
| publication_year | 2025 |
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