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Method: Autoencoders for genomic variation analysis
- Margarita Geleta,
- Daniel Mas Montserrat,
- Xavier Giro-i-Nieto,
- and Alexander G. Ioannidis
Genome Res. February 2026 36: 348-360; Published in Advance January 20, 2026, doi:10.1101/gr.280086.124
...are needed in order to properly capture the genetic composition of populations. Here, we explore deep learning techniques, namely, variational autoencoders (VAEs), to process genomic data from a population perspective. We show the power of VAEs for a variety of tasks relating to the interpretation...
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Method: High-resolution genotype-free mapping of genetic variation with CRI-SPA-Map
- Sheila Lutz,
- Megan Lawler,
- Samuel Amidon,
- and Frank W Albert
Genome Res. March 23, 2026 gr.281514.125; Published in Advance March 23, 2026, doi:10.1101/gr.281514.125
...† equal contribution 9 * Corresponding authors: S.L. (lutz0006@umn.edu); F.W.A. (falbert@umn.edu) 10 11 Running title: Mapping of genetic variation with CRI-SPA-Map 12 ABSTRACT 13 Genetic variation within species shapes phenotypes, but identifying the specific genes and 14 variants that cause phenotypic...
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Method: Read-level genotyping of short tandem repeats using long reads and single-nucleotide variation with STRkit
- David R. Lougheed,
- Tomi Pastinen,
- and Guillaume Bourque
Genome Res. March 2026 36: 578-588; Published in Advance January 15, 2026, doi:10.1101/gr.280766.125
...variation to gene regulation in human brain. Nat Genet 57: 369–378. doi:10.1038/s41588-024-02057-2 ↵Daily J. 2016. Parasail: SIMD C library for global, semi-global, and local pairwise sequence alignments. BMC Bioinformatics 17: 81. doi:10.1186/s12859-016-0930-z ↵De Coster W, Hoijer I, Bruggeman I, D'Hert S...
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Method: Gene duplication is associated with gene diversification and potential neofunctionalization in lung cancer evolution
- Paul Ashford,
- Alexander M. Frankell,
- Zofia Piszka,
- Camilla S.M. Pang,
- Mahnaz Abbasian,
- Maise Al Bakir,
- Mariam Jamal-Hanjani,
- Nicholas McGranahan,
- Charles Swanton,
- and Christine A. Orengo
Genome Res. March 2026 36: 561-577; Published in Advance February 19, 2026, doi:10.1101/gr.278663.123
...for functional variations in genes while preserving wild-type functions and can thus diversify functional adaptations in tumors.As FIEs were identified using functional families with PDB structures, they represent a subset of the total possible FIEs that could be identified given increased structural coverage...
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Research: Landscape of microRNA and target expression variation and covariation in single mouse embryonic stem cells
- Marcel Tarbier,
- Sebastian D. Mackowiak,
- Vaishnovi Sekar,
- Franziska Bonath,
- Etka Yapar,
- Bastian Fromm,
- Omid R. Faridani,
- Inna Biryukova,
- and Marc R. Friedländer
Genome Res. February 2026 36: 291-302; Published in Advance January 12, 2026, doi:10.1101/gr.279914.124
...is well established that miRNAs can repress the expression of their targets, at both the RNA and the protein level (Baek et al. 2008; Selbach et al. 2008). However, alternative functions for miRNAs have also been proposed, including buffering of gene expression variation (noise) (Hornstein and Shomron...
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Resource: The SynMall resource for characterizing the functional impact of synonymous variation
- Chen Ye,
- Xiaoyan Li,
- Na Cheng,
- Yansen Su,
- and Junfeng Xia
Genome Res. February 2026 36: 421-431; Published in Advance December 17, 2025, doi:10.1101/gr.281257.125
...annotation databases offer limited functional insights for sSNVs. Here, we present SynMall, a comprehensive resource designed to decipher the functional impact of synonymous variation. SynMall catalogs 25 million potential human sSNVs and integrates evolutionary and population information of sSNVs from 45...
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Method: Accurate estimation of intraspecific microbial gene content variation in metagenomic data with MIDAS v3 and StrainPGC
- Byron J. Smith,
- Chunyu Zhao,
- Veronika Dubinkina,
- Xiaofan Jin,
- Liron Zahavi,
- Saar Shoer,
- Jacqueline Moltzau-Anderson,
- Eran Segal,
- and Katherine S. Pollard
Genome Res. May 2025 35: 1247-1260; Published in Advance April 10, 2025, doi:10.1101/gr.279543.124
...in a microbial community, but they often fall short in characterizing variation in gene content between strains (Plaza Oñate et al. 2019). As a result, it is challenging to study the functional consequences of strain-level variation in the gut microbiome.The most common way to study microbial gene content...
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Method: Analysis of coding gene expression from small RNA sequencing
- Aygun Azadova,
- Anthonia Ekperuoh,
- Greg N. Brooke,
- and Antonio Marco
Genome Res. March 2026 36: 611-618; Published in Advance February 10, 2026, doi:10.1101/gr.281364.125
...of microRNA expression analyses is reflected by the existence of thousands of sRNA-seq studies in which matched total RNA-seq data are often unavailable. The lack of paired sequencing experiments limits the analysis of microRNA–gene regulatory networks. Here, we explore whether protein-coding gene...
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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
...moderate and low impact, respectively, and the remaining 6.4% were rated high impact (Fig. 4B). Our results thus suggest that improved gene coverage facilitates detection of functionally relevant variation.We identified 17,446 LoF variants using T2T-CHM13, an increase from GRCh37 and GRCh38 (Table 1...
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Method: Parallel analysis of replication timing, gene expression, and copy number with PARTAGE
- Lakshana Sruthi Sadu Murari,
- Quinn Dickinson,
- Silvia Meyer-Nava,
- and Juan Carlos Rivera-Mulia
Genome Res. March 19, 2026 ; Published in Advance March 19, 2026, doi:10.1101/gr.281532.125
...to abnormal gene expression, instability, and structural variation in multiple diseases, including cancer. However, mechanistic links between RT, large-scale 3D architecture, and transcriptional regulation remain poorly understood. A major limitation is that current approaches require the separate profiling...
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