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Keywords: genetics
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Efficiency in conservation: Comparable genetic and population data from one and two non-invasive sampling rounds in Tetrao urogallus (Western Capercaillie)

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Marlene Haider and others
Ornithological Applications, duaf031, https://doi.org/10.1093/ornithapp/duaf031
Published: 25 April 2025
..., provided the original work is properly cited. Abstract Non-invasive genetic sampling is often used in conservation biology to assess population genetic parameters and population size of rare and elusive species. However, this sampling method poses some challenges, such as identifying an appropriate...
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Herbariomic approach solved identity crisis of the putatively extinct Armeria arcuata Welw. ex Boiss. & Reut. (Plumbaginaceae) Get access

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Thomas Abeli and others
Annals of Botany, mcaf042, https://doi.org/10.1093/aob/mcaf042
Published: 25 April 2025
... in the Wild Ex situ Herbaria Herbariomics Conservation genetics Botanical gardens Plant conservation Hybridization Accepted Manuscript Herbariomic approach solved identity crisis of the putatively extinct Armeria arcuata Welw. ex Boiss. & Reut. (Plumbaginaceae) Thomas Abeli1, Giulia Albani...
Journal Article

Genetic characteristics associated with isolated Microtia revealed through whole exome sequencing of 201 pedigrees Get access

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Siyi Wu and others
Human Molecular Genetics, ddaf063, https://doi.org/10.1093/hmg/ddaf063
Published: 25 April 2025
... have been implicated in syndromic forms of microtia, the genetic underpinnings of isolated microtia remain poorly understood. In this study, we conducted whole exome sequencing (WES) on 201 pedigrees with isolated microtia to investigate its genetic basis. Bioinformatics analysis identified 1362...
Journal Article

The phenotypic and genetic association between endometriosis and immunological diseases

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Nina Shigesi and others
Human Reproduction, deaf062, https://doi.org/10.1093/humrep/deaf062
Published: 22 April 2025
... a shared genetic basis contribute to this risk? SUMMARY ANSWER Endometriosis patients show a significantly increased risk of autoimmune, autoinflammatory, and mixed-pattern diseases, including rheumatoid arthritis, multiple sclerosis, coeliac disease, osteoarthritis, and psoriasis, with genetic...
Journal Article

Mutual-assistance learning for trustworthy biomarker discovery and disease prediction

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Jin Zhang and others
Briefings in Bioinformatics, Volume 26, Issue 2, March 2025, bbaf178, https://doi.org/10.1093/bib/bbaf178
Published: 21 April 2025
... scores and disease status classification, while maintaining exceptional interpretability, verifying its flexibility and versatility in practical applications. multi-omics brain imaging genetics G × E interactions biomarker discovery MOST 2030 Brain Project 2022ZD0208500 National Natural Science...
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Innovations that changed mammalogy: frozen tissue collections Get access

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Robert M Timm and others
Journal of Mammalogy, gyaf007, https://doi.org/10.1093/jmammal/gyaf007
Published: 18 April 2025
... significantly. In the mid-1980s, for example, the development of polymerase chain reaction—which allowed researchers to amplify a specific segment of DNA many times over—reinforced the importance of frozen tissue resources to the burgeoning field of molecular genetics. Ultracold mechanical freezers that hold...
Journal Article

Sexual Size Dimorphism Correlates With the Number of Androgen Response Elements in Mammals, But Only in Small-Bodied Species

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Caleb R Ghione and Matthew D Dean
Genome Biology and Evolution, Volume 17, Issue 4, April 2025, evaf068, https://doi.org/10.1093/gbe/evaf068
Published: 18 April 2025
... dimorphism, body size, and hormone signaling that likely varies in ways related to life history. sexual size dimorphism hormone response elements androgen signaling genetics evolution National Science Foundation 10.13039/100000001 #2027373 Significance How does sexual size dimorphism, where males...
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Phenotypic and genetic diversity in diabetes across populations Get access

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Aaron J Deutsch and Miriam S Udler
The Journal of Clinical Endocrinology & Metabolism, dgaf234, https://doi.org/10.1210/clinem/dgaf234
Published: 15 April 2025
... phenotypes in other populations, including a varied relationship between diabetes risk and body mass index. These differences may be partly attributable to genetic variation among populations. Understanding and leveraging this genetic variation can aid in the development of precision medicine approaches...
Journal Article
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Heterosis in wheat: mechanisms, benefits, and challenges in hybrid development

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Isobella Revell and others
Journal of Experimental Botany, eraf159, https://doi.org/10.1093/jxb/eraf159
Published: 15 April 2025
... by plant breeders and grain growers for more than a century, and open pollinated crops such as maize have been successfully commercialised. However, the full genetic potential of heterosis has yet to be realised and the fundamental mechanisms underlying this complex process are poorly understood...
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Unraveling the Complexity of Primary Ovarian Insufficiency Genetics Get access

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Vinicius Nahime Brito and Berenice Bilharinho Mendonca
The Journal of Clinical Endocrinology & Metabolism, dgaf242, https://doi.org/10.1210/clinem/dgaf242
Published: 12 April 2025
...:https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) primary ovarian insufficiency genetics fertility ACCEPTED MANUSCRIPT 1 Invited Commentary 2 Unraveling the Complexity of Primary Ovarian Insufficiency Genetics 3 Vinicius Nahime Brito 1 (ORCID 0000-0002-1052-2246), 4 Berenice Bilharinho Mendonca 1 (ORCID...
Journal Article

Promising high fidelity genetic markers for sexing Cannabis sativa seedlings

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Djivan Prentout and others
G3 Genes|Genomes|Genetics, jkaf077, https://doi.org/10.1093/g3journal/jkaf077
Published: 09 April 2025
... cedex. Email: [email protected] Conflicts of interest: FM is an employee at the hemp breeding company, Hemp-it ADN. 14 11 2024 01 04 2025 24 04 2025 © The Author(s) 2025. Published by Oxford University Press on behalf of The Genetics Society of America. 2025 This is an Open...
Journal Article
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TRACKing Tandem Repeats: a customizable pipeline for identification and cross-species comparison

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Carolina L Adam and others
Bioinformatics Advances, vbaf066, https://doi.org/10.1093/bioadv/vbaf066
Published: 08 April 2025
... and sequence alignment methods to identify putative homologous TRs between species. For further analyses, TRACK can be used to genotype TRs and subsequently estimate and plot basic population genetic statistics. By incorporating key functionalities within an integrated workflow, TRACK enhances TR analysis...
Journal Article
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Dimensionality Reduction of Genetic Data using Contrastive Learning

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Filip Thor and Carl Nettelblad
Genetics, iyaf068, https://doi.org/10.1093/genetics/iyaf068
Published: 07 April 2025
...Filip Thor; Carl Nettelblad; John Novembre Corresponding author: [email protected] 21 01 2025 05 03 2025 26 03 2025 OXFORD Dimensionality Reduction of Genetic Data using Contrastive Learning Filip Thor and Carl Nettelblad Division of Scientific Computing, Department of Information...
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Epidemiology, genetic etiology and intervention of premature ovarian insufficiency Get access

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Ting Guo and others
Endocrine Reviews, bnaf011, https://doi.org/10.1210/endrev/bnaf011
Published: 03 April 2025
... characteristics of POI suggest that its occurrence likely involves a combination of genetic and environmental factors. Deciphering the pathogenic mechanisms of POI is crucial for improving reproductive outcomes as well as managing the long-term complications associated with ovarian dysfunction. Recent studies...
Journal Article

BCG induced innate immune response heterogeneity and susceptibility to pediatric tuberculosis Get access

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Christine Anterasian and others
The Journal of Immunology, vkae062, https://doi.org/10.1093/jimmun/vkae062
Published: 02 April 2025
... a nested case-control study with a 2-yr prospective observation period to examine whether genetic variation is associated with BCG-induced innate immune responses and susceptibility to pediatric TB (N = 134 cases, 516 controls) in BCG-vaccinated infants. Whole blood collected at 10 wk of age from 189...
Journal Article

SLC25A11, a Novel Gene Associated With Carney-Stratakis Syndrome

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Felipe Freitas-Castro and others
Journal of the Endocrine Society, Volume 9, Issue 5, May 2025, bvaf052, https://doi.org/10.1210/jendso/bvaf052
Published: 02 April 2025
... in the succinate dehydrogenase subunit genes (SDHB, SDHC, SDHD). Methods Histological, genetic, and functional analyses were conducted in a 59-year-old female with CSS (9 cm left pheochromocytoma, 4.8 cm paraganglioma, and 9.3 cm GIST). Whole-exome sequencing (WES) of germline DNA paired with tumor...
Journal Article

Genetic and environmental contributions to the development of dental arch traits: a longitudinal twin study

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Jamal Giri and others
European Journal of Orthodontics, Volume 47, Issue 2, April 2025, cjaf018, https://doi.org/10.1093/ejo/cjaf018
Published: 02 April 2025
... (NHMRC) of Australia twin registry. The twins belonged to middle-class families in Adelaide and Melbourne and were raised together. Twin zygosities were ascertained by analysing up to six highly variable genetic loci (FES, vWA31, F13A1, THO1, D21S11, FGA) on six different chromosomes from buccal cell DNA...
Journal Article

Temporal Patterns of Haplotypic and Allelic Diversity Reflect the Changing Selection Landscape of the Malaria Parasite Plasmodium falciparum

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Angela M Early and others
Molecular Biology and Evolution, Volume 42, Issue 4, April 2025, msaf075, https://doi.org/10.1093/molbev/msaf075
Published: 01 April 2025
... successfully adapted to new drugs through novel resistance mutations. These novel mutations, however, emerge in a genetic background already shaped by prior drug selection. In some instances, selection imposed by different drugs targets the same loci in either synergistic or antagonistic ways, which may leave...
Journal Article

Genetic evidence of female philopatry in a socially polyandrous shorebird Get access

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Leilton W Luna and Sara E Lipshutz
Evolution, qpaf069, https://doi.org/10.1093/evolut/qpaf069
Published: 31 March 2025
... Sex-biased dispersal plays a key role in shaping population dynamics and genetic structure. Two main hypotheses have been proposed for how territoriality and mating competition impact sex-biased dispersal. Female-biased dispersal is expected in monogamous systems with male resource defense, whereas...
Journal Article

Genetic analyses of Culicoides peregrinus (Diptera: Ceratopogonidae) reveal population differentiation in southern India a hotspot of bluetongue disease outbreaks and lack of gene flow across its range Get access

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Arjun Pal and others
Journal of Medical Entomology, tjaf039, https://doi.org/10.1093/jme/tjaf039
Published: 27 March 2025
... throughout India. These factors warrant the elucidation of its genetic structure across various physiographic regions. Adult Culicoides were captured from 14 collection locations across different physiographic areas of India. The study used 2 genetic markers, ie mitochondrial cytochrome oxidase-1...