Searching journal content for articles similar to Freudenberg-Hua et al. 13 (10): 2271.

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Research: Modest increase in the de novo single-nucleotide mutation rate in house mice born by assisted reproduction
- Laura Blanco-Berdugo,
- Alexis Garretson,
- and Beth L. Dumont
Genome Res. January 2026 36: 50-60; Published in Advance November 13, 2025, doi:10.1101/gr.281180.125
...cohort consists of two litters of half-siblings. Circles represent females and squares represent males. (B) Box plots showing the median, interquartile range, and full range of dnSNV rates per base pair/generation across G2 samples. (C,D) Box plots summarizing sample- and cohort-level variation...
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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
...–189. doi:10.1038/s41591-022-02142-1 ↵Cezard T, Cunningham F, Hunt SE, Koylass B, Kumar N, Saunders G, Shen A, Silva AF, Tsukanov K, Venkataraman S, et al. 2022. The European Variation Archive: a FAIR resource of genomic variation for all species. Nucleic Acids Res 50: D1216–D1220. doi:10.1093/nar/gkab960...
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Perspective: The impact of long-read sequencing on human population-scale genomics
- Tobias Rausch,
- Tobias Marschall,
- and Jan O. Korbel
Genome Res. April 2025 35: 593-598; doi:10.1101/gr.280120.124
..., et al. 2021. Expectations and blind spots for structural variation detection from long-read assemblies and short-read sequencing technologies. Am J Hum Genet 108: 919–928. doi:10.1016/j.ajhg.2021.03.014 Tobias Rausch 1 , Tobias Marschall 2 , 3 and Jan O. Korbel 1 1European Molecular Biology...
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Resource: GenomeMUSter mouse genetic variation service enables multitrait, multipopulation data integration and analysis
- Robyn L. Ball,
- Molly A. Bogue,
- Hongping Liang,
- Anuj Srivastava,
- David G. Ashbrook,
- Anna Lamoureux,
- Matthew W. Gerring,
- Alexander S. Hatoum,
- Matthew J. Kim,
- Hao He,
- Jake Emerson,
- Alexander K. Berger,
- David O. Walton,
- Keith Sheppard,
- Baha El Kassaby,
- Francisco Castellanos,
- Govindarajan Kunde-Ramamoorthy,
- Lu Lu,
- John Bluis,
- Sejal Desai,
- Beth A. Sundberg,
- Gary Peltz,
- Zhuoqing Fang,
- Gary A. Churchill,
- Robert W. Williams,
- Arpana Agrawal,
- Carol J. Bult,
- Vivek M. Philip,
- and Elissa J. Chesler
Genome Res. January 2024 34: 145-159; Published in Advance January 30, 2024, doi:10.1101/gr.278157.123
...and use this variation to better model, map, and characterize the variation associated with complex human disease.MethodsPreprocessing of whole- sequence dataWhole- sequence data of the CC (Srivastava et al. 2017) were downloaded from the European Nucleotide Archive (ENA; https...
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Resource: Mitochondrial DNA variation across 56,434 individuals in gnomAD
- Kristen M. Laricchia,
- Nicole J. Lake,
- Nicholas A. Watts,
- Megan Shand,
- Andrea Haessly,
- Laura Gauthier,
- David Benjamin,
- Eric Banks,
- Jose Soto,
- Kiran Garimella,
- James Emery,
- Genome Aggregation Database Consortium,
- Heidi L. Rehm,
- Daniel G. MacArthur,
- Grace Tiao,
- Monkol Lek,
- Vamsi K. Mootha,
- and Sarah E. Calvo
Genome Res. March 2022 32: 569-582; Published in Advance January 24, 2022, doi:10.1101/gr.276013.121
..., and 4250/4571 (93%) of all haplogroup markers were observed in the data set, emphasizing the haplogroup and population diversity of the samples included in the current release. The mtDNA reference sequence in hg38, also known as the revised Cambridge Reference Sequence (rCRS), belongs to the European top...
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Research: Population genomics reveals mechanisms and dynamics of de novo expressed open reading frame emergence in Drosophila melanogaster
- Anna Grandchamp,
- Lucas Kühl,
- Marie Lebherz,
- Kathrin Brüggemann,
- John Parsch,
- and Erich Bornberg-Bauer
Genome Res. June 2023 33: 872-890; Published in Advance July 13, 2023, doi:10.1101/gr.277482.122
...). The Zambian line did not differ from the European lines in terms of its total number of neORFs (Fig. 2A). Because the Zambian population is known to have a larger effective population size than European populations and to remove deleterious variation more effectively (Kapopoulou et al. 2018), this suggests...
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Research: Genomic analyses of wild argali, domestic sheep, and their hybrids provide insights into chromosome evolution, phenotypic variation, and germplasm innovation
- Xin Li,
- San-Gang He,
- Wen-Rong Li,
- Ling-Yun Luo,
- Ze Yan,
- Dong-Xin Mo,
- Xing Wan,
- Feng-Hua Lv,
- Ji Yang,
- Ya-Xi Xu,
- Juan Deng,
- Qiang-Hui Zhu,
- Xing-Long Xie,
- Song-Song Xu,
- Chen-Xi Liu,
- Xin-Rong Peng,
- Bin Han,
- Zhong-Hui Li,
- Lei Chen,
- Jian-Lin Han,
- Xue-Zhi Ding,
- Renqing Dingkao,
- Yue-Feng Chu,
- Jin-Yan Wu,
- Li-Min Wang,
- Ping Zhou,
- Ming-Jun Liu,
- and Meng-Hua Li
Genome Res. September 2022 32: 1669-1684; Published in Advance August 10, 2022, doi:10.1101/gr.276769.122
...species of the genus Ovis have been identified with varying diploid numbers of chromosomes (2n = 52–58), consisting of domestic sheep (Ovis aries) and their seven extant wild relatives (argali, Ovis ammon; Asiatic mouflon, Ovis orientalis; European mouflon, Ovis musimon; urial, Ovis vignei; bighorn sheep...
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Research: Deficiency of nucleotide excision repair is associated with mutational signature observed in cancer
- Myrthe Jager,
- Francis Blokzijl,
- Ewart Kuijk,
- Johanna Bertl,
- Maria Vougioukalaki,
- Roel Janssen,
- Nicolle Besselink,
- Sander Boymans,
- Joep de Ligt,
- Jakob Skou Pedersen,
- Jan Hoeijmakers,
- Joris Pothof,
- Ruben van Boxtel,
- and Edwin Cuppen
Genome Res. July 2019 29: 1067-1077; Published in Advance June 20, 2019, doi:10.1101/gr.246223.118
...Committee in full accordance with European legislation.Human endoscopic biopsies were performed at the University Medical Center Utrecht and the Wilhelmina Children's Hospital. The patients’ informed consent was obtained, and this study was approved by the ethical committee of University Medical Center...
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Research: Copy number variation underlies complex phenotypes in domestic dog breeds and other canids
- Aitor Serres-Armero,
- Brian W. Davis,
- Inna S. Povolotskaya,
- Carlos Morcillo-Suarez,
- Jocelyn Plassais,
- David Juan,
- Elaine A. Ostrander,
- and Tomas Marques-Bonet
Genome Res. May 2021 31: 762-774; Published in Advance April 16, 2021, doi:10.1101/gr.266049.120
...of the National Institutes of Health. T.M.-B. was funded by European Research Council ERC-CON-2019-864203, BFU2017-86471-P (MINECO/FEDER, UE), “Unidad de Excelencia María de Maeztu,” funded by the Agencia Estatal de Investigación (CEX2018-000792-M), Howard Hughes International Early Career, Obra Social “La Caixa...
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Research: Divergence patterns of genic copy number variation in natural populations of the house mouse (Mus musculus domesticus) reveal three conserved genes with major population-specific expansions
- Željka Pezer,
- Bettina Harr,
- Meike Teschke,
- Hiba Babiker,
- and Diethard Tautz
Genome Res. August 2015 25: 1114-1124; Published in Advance July 6, 2015, doi:10.1101/gr.187187.114
...into the database of genomic structural variation (dbVAR; http://www.ncbi.nlm.nih.gov/dbvar/) under accession number nstd95. The raw sequence reads were deposited in the European Nucleotide Archive (ENA; http://www.ebi.ac.uk/ena/) under project accession number PRJEB9450.AcknowledgmentsWe thank Nicole Thomsen...
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