Exome sequencing of UK birth cohorts [version 2; peer review: 2 approved, 1 approved with reservations] by Petr Danecek, Amy Hough, John Wright, Karen Ho, Nicholas J. Timpson, Sarah J. Lindsay, Davide Bonfanti, Daniel S. Malawsky, Rafaq Azad, Deborah Plowman, Sara Widaa, Gemma Shireby, Emla Fitzsimons, David Bann, Matthew E. Hurles, Hilary C. Martin, Susan M. Ring, Dan Mason, Michael A. Quail, Wei Huang, Vivek Iyer, Mahmoud Koko, Iaroslav Popov, Laurie Fabian, Gennadii Zakharov, Ruth Y. Eberhardt, Emma E. Wade, Qin Qin Huang

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Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer by Wen Wen, Sen Zhao, Yiwen Jiang, Chengzhu Ou, Changyuan Guo, Ziqi Jia, Jiayi Li, Yansong Huang, Hengyi Xu, Pengming Pu, Tongxuan Shang, Lin Cong, Xiang Wang, Nan Wu, Jiaqi Liu

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Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorecta... by Romy Walker, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Julia Como, Susan G. Preston, Sharelle Joseland, Bernard J. Pope, Ana B.D. Medeiros, Brenely V. Murillo, Nicholas Pachter, Kevin Sweet, Allan D. Spigelman, Alexandra Groves, Margaret Gleeson, Krzysztof Bernatowicz, Nicola Poplawski, Lesley Andrews, Emma Healey, Steven Gallinger, Robert C. Grant, Aung K. Win, John L. Hopper, Mark A. Jenkins, Giovana T. Torrezan, Christophe Rosty, Finlay A. Macrae, Ingrid M. Winship, Daniel D. Buchanan, Peter Georgeson

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Concurrent DNA hypomethylation and epigenomic reprogramming driven by androgen receptor binding in bladder cancer oncogenesis by Yu Xiao, Lingao Ju, Wan Jin, Hongwei Peng, Zongning Zhou, Mengxue Yu, Zilin Xu, Gang Wang, Kaiyu Qian, Yi Zhang, Xinghuan Wang

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Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder by Marina Laplana, José Luis Royo, Anton Aluja, Ricard López, Damiàn Heine-Sunyer, Joan Fibla

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Structural Variation of Element and Human Disease by Songmi Kim, Chun-Sung Cho, Kyudong Han, Jungnam Lee

“…The second part discusses the particular role of Alu elements in generating genomic rearrangements as well as human genetic disorders.…”
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The Zebrafish model in dermatology: an update for clinicians by Irene Russo, Emma Sartor, Laura Fagotto, Anna Colombo, Natascia Tiso, Mauro Alaibac

“…Several studies have proved that there is a high level of similarity between human and zebrafish genomes, which encourages the use of zebrafish as a model for understanding human genetic disorders, including cancer. Interestingly, zebrafish skin shows several similarities to human skin, suggesting that this model organism is particularly suitable for the study of neoplastic and inflammatory skin disorders. …”
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Alu Mobile Elements: From Junk DNA to Genomic Gems by Sami Dridi

“…Indeed, Alu RNAs have been shown to control mRNA processing at several levels, to have complex regulatory functions such as transcriptional repression and modulating alternative splicing and to cause a host of human genetic diseases. Alu RNAs embedded in Pol II transcripts can promote evolution and proteome diversity, which further indicates that these mobile retroelements are in fact genomic gems rather than genomic junks.…”
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Jeremy Rifkin o konsekwencjach rewolucji biotechnologii. Krytyka „ery biotechnologii” by Anna Słoniowska

“…Firstly, there is no way of predicting the effects of biotechnology. Secondly, the human genetic code will be used for commercial purposes. …”
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Computational Methods to Work as First-Pass Filter in Deleterious SNP Analysis of Alkaptonuria by R. Magesh, C. George Priya Doss

“…A major challenge in the analysis of human genetic variation is to distinguish functional from nonfunctional SNPs. …”
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SOST and DKK: Antagonists of LRP Family Signaling as Targets for Treating Bone Disease by James J. Mason, Bart O. Williams

“…The study of rare human genetic disorders has often led to some of the most significant advances in biomedical research. …”
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3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons by Sunghee Cho, Heegyum Moon, Tiing Jen Loh, Hyun Kyung Oh, Hey-Ran Kim, Myung-Geun Shin, D. Joshua Liao, Jianhua Zhou, Xuexiu Zheng, Haihong Shen

“…Spinal muscular atrophy (SMA) is a human genetic disease which occurs because of the deletion or mutation of SMN1 gene. …”
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Advances in the Development and Application of Human Organoids: Techniques, Applications, and Future Perspectives by Zhangcheng Zhu, Yiwen Cheng, Xia Liu, Wenwen Ding, Jiaming Liu, Zongxin Ling, Lingbin Wu

“…These microstructures are invaluable for biomedical research due to their ability to closely mimic the complexity of native tissues while retaining human genetic material. This fidelity to native organ systems positions organoids as a powerful tool for advancing our understanding of human biology and for enhancing preclinical drug testing. …”
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PPARs, Cardiovascular Metabolism, and Function: Near- or Far-from-Equilibrium Pathways by Yves Lecarpentier, Victor Claes, Jean-Louis Hébert

“…New functions of PPARs are reported in the arrhythmogenic right ventricular cardiomyopathy, a human genetic heart disease. It is now possible to link the genetic desmosomal abnormalitiy to the presence of fat in the right ventricle, partly due to an overexpression of PPARγ. …”
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Analysis of Embryoid Bodies Derived from Human Induced Pluripotent Stem Cells as a Means to Assess Pluripotency by Steven D. Sheridan, Vasudha Surampudi, Raj R. Rao

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A copy number variation detection method based on OCSVM algorithm using multi strategies integration by Mengjiao Zhou, Jinxin Dong, Hua Jiang, Zuyao Zhao, Tianting Yuan

“…Abstract Copy number variation (CNV) is an important part of human genetic variations, which is associated with various kinds of diseases. …”
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Global Distribution of Common Variable Immunodeficiency (CVID) in the Light of the UNDP Human Development Index (HDI): A Preliminary Perspective of a Rare Disease by Niels Weifenbach, Annalena A. C. Schneckenburger, Stefan Lötters

“…As a potential alternative explanation, we briefly discuss the possibility that variation in CVID prevalence is related to human genetic lineage.…”
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Maternal obesity increases hypothalamic miR-505-5p expression in mouse offspring leading to altered fatty acid sensing and increased intake of high-fat food. by Laura Dearden, Isadora C Furigo, Lucas C Pantaleão, L W P Wong, Denise S Fernandez-Twinn, Juliana de Almeida-Faria, Katherine A Kentistou, Maria V Carreira, Guillaume Bidault, Antonio Vidal-Puig, Ken K Ong, John R B Perry, Jose Donato, Susan E Ozanne

“…We demonstrate that targets of miR-505-5p are enriched in fatty acid metabolism pathways and overexpression of miR-505-5p decreased neuronal fatty acid metabolism in vitro. miR-505-5p targets are associated with increased BMI in human genetic studies. Intra-cerebroventricular injection of miR-505-5p in wild-type mice increased HFD intake, mimicking the phenotype observed in offspring exposed to maternal obesity. …”
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Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data by Soon-Young Kim, Ji-Hong Kim, Yeun-Jun Chung

“…In addition to single-nucleotide polymorphisms (SNP), copy number variation (CNV) is a major component of human genetic diversity. Among many whole-genome analysis platforms, SNP arrays have been commonly used for genomewide CNV discovery. …”
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Genetic diversity leads to differential inflammatory responses to cigarette smoke in mice by Md Imam Faizan, Gagandeep Kaur, Sadiya Bi Shaikh, Felix Effah, Hoshang Unwalla, Irfan Rahman

“…Abstract The use of genetically diverse mouse models offers a more accurate reflection of human genetic variability, improving the translatability of findings to heterogeneous human populations. …”
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