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Research: T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population
- Daniel Schmitz,
- Adam Ameur,
- and Åsa Johansson
Genome Res. November 2025 35: 2377-2388; Published in Advance September 16, 2025, doi:10.1101/gr.279320.124
...the whole cohort. (A) Comparison of overall variant counts, separated by variant type (SNV, indel, or mixed, i.e., both) between variant calls from the different assemblies. (B) Overall numbers of variants by predicted impact in the whole call set as determined by SnpEff for each assembly. Variants...
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Method: Accurate detection of tandem repeats from error-prone sequences with EquiRep
- Zhezheng Song,
- Tasfia Zahin,
- Xiang Li,
- and Mingfu Shao
Genome Res. December 2025 35: 2714-2721; Published in Advance August 21, 2025, doi:10.1101/gr.280750.125
...units can have important biological implications. Although EquiRep is applicable in such contexts, its current inability to automatically detect and resolve multiple repeat regions within a sequence introduces challenges for practical use. We will carefully take these factors into account as we continue...
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Research: Whole-genome resequencing of temporally stratified samples reveals substantial loss of haplotype diversity in the highly inbred Scandinavian wolf population
- Agnese Viluma,
- Øystein Flagstad,
- Mikael Åkesson,
- Camilla Wikenros,
- Håkan Sand,
- Petter Wabakken,
- and Hans Ellegren
Genome Res. March 2022 32: 449-458; Published in Advance February 8, 2022, doi:10.1101/gr.276070.121
...within self-aligned regions were excluded. Third, remaining markers were filtered with the following criteria “‐‐remove-indels ‐‐mac 1 ‐‐min-alleles 2 ‐‐max-alleles 2 ‐‐minGQ 30 ‐‐minQ 300 ‐‐maxDP 80” using VCFtools 0.1.15 (Danecek et al. 2011). Fourth, we discarded SNP markers coinciding with SNP...
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Method: Analytical validation of germline small variant detection using long-read HiFi genome sequencing
- Nathan Hammond,
- Linda Liao,
- Pun Wai Tong,
- Zena Ng,
- Thuy-Mi P. Nguyen,
- Chandler Ho,
- Yao Yang,
- and Stuart A. Scott
Genome Res. June 2025 35: 1391-1399; Published in Advance April 11, 2025, doi:10.1101/gr.278836.123
...: bbaa148. doi:10.1093/bib/bbaa148 ↵Poplin R, Chang PC, Alexander D, Schwartz S, Colthurst T, Ku A, Newburger D, Dijamco J, Nguyen N, Afshar PT, et al. 2018. A universal SNP and small-indel variant caller using deep neural networks. Nat Biotechnol 36: 983–987. doi:10.1038/nbt.4235 ↵Rajagopalan R, Murrell...
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Resource: SNP detection for massively parallel whole-genome resequencing
- Ruiqiang Li,
- Yingrui Li,
- Xiaodong Fang,
- Huanming Yang,
- Jian Wang,
- Karsten Kristiansen,
- and Jun Wang
Genome Res. June 2009 19: 1124-1132; Published in Advance May 6, 2009, doi:10.1101/gr.088013.108
...Phred ( Stephens et al. 2006 ), and PolyScan ( Chen et al. 2007 ), has been developed to examine chromatogram files to detect heterozygous polymorphisms. New DNA sequencing technologies, which have recently been developed and implemented, such as the Illumina Genome Analyzer (GA), Roche/454 FLX system, and AB SOLi...
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Method: GeneMark-ETP significantly improves the accuracy of automatic annotation of large eukaryotic genomes
- Tomáš Brůna,
- Alexandre Lomsadze,
- and Mark Borodovsky
Genome Res. May 2024 34: 757-768; Published in Advance June 12, 2024, doi:10.1101/gr.278373.123
...GeneMark-ETP significantly improves the accuracy of automatic annotation of large eukaryotic s Tomáš Brůna1,4,5, Alexandre Lomsadze2,4 and Mark Borodovsky1,2,3 1School of Biological Sciences, Georgia Institute of Technology, Atlanta, Georgia 30332, USA; 2Wallace H. Coulter Department of Biomedical...
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Method: Spatial domain detection using contrastive self-supervised learning for spatial multi-omics technologies
- Jianing Yao,
- Jinglun Yu,
- Brian Caffo,
- Stephanie C. Page,
- Keri Martinowich,
- and Stephanie C. Hicks
Genome Res. July 2025 35: 1621-1632; Published in Advance May 20, 2025, doi:10.1101/gr.279380.124
...in Healthcare, Johns Hopkins University, Baltimore, Maryland 21218, USA Corresponding author: shicks19@jhu.eduAbstractRecent advances in spatially resolved single-omic and multi-omics technologies have led to the emergence of computational tools to detect and predict spatial domains. Additionally, histological...
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Method: Methyl-SNP-seq reveals dual readouts of methylome and variome at molecule resolution while enabling target enrichment
- Bo Yan,
- Duan Wang,
- Romualdas Vaisvila,
- Zhiyi Sun,
- and Laurence Ettwiller
Genome Res. November/December 2022 32: 2079-2091; Published in Advance November 4, 2022, doi:10.1101/gr.277080.122
...of the strands to identify cytosine methylation while retaining the original four-bases sequence information on the other strand. As both strands are locked together to link the dual readouts on a single paired-end read, Methyl-SNP-seq allows detecting the methylation status of any DNA even without a reference...
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Method: STCC enhances spatial domain detection through consensus clustering of spatial transcriptomics data
- Congcong Hu,
- Nana Wei,
- Jiyuan Yang,
- Hua-Jun Wu,
- and Xiaoqi Zheng
Genome Res. June 2025 35: 1415-1428; Published in Advance May 12, 2025, doi:10.1101/gr.280031.124
...technologies has yielded substantial spatial transcriptomics data. Deriving biological insights from these data poses nontrivial computational and analysis challenges, of which the most fundamental step is spatial domain detection (or spatial clustering). Although a number of tools for spatial domain detection...
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Method: Statistically rigorous and computationally efficient chromatin stripe detection with Quagga
- Fan Feng,
- Sean Moran,
- Anders S. Hansen,
- Xiaotian Zhang,
- and Jie Liu
Genome Res. January 2026 36: 159-168; Published in Advance November 12, 2025, doi:10.1101/gr.280132.124
...determination. Therefore, integrated analysis of stripes with genomic and epigenomic features at a -wide scale shows vast potential in understanding the cooperation between regulatory elements in 3D nucleome. To this end, we present Quagga, a computational tool for detection and statistical verification...
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