Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated wit... by E. V. Grigor’eva, A. A. Malakhova, E. S. Yarkova, J. M. Minina, Y. V. Vyatkin, J. A. Nadtochy, E. A. Khabarova, J. A. Rzaev, S. P. Medvedev, S. M. Zakian

“…As there are currently no medically approved treatments for frontotemporal dementia, there is an urgent need for research using in vitro cell models to understand the molecular genetic mechanisms that lead to the development of the disease, to identify targets for therapeutic intervention and to test potential drugs to prevent neuronal death. Analysis of exome sequencing data from a 46-year-old patient with a clinical diagnosis of Parkinson’s disease revealed the presence of the pathological variant c.2013T>G (rs63750756) in the MAPT gene, which is associated with frontotemporal dementia with parkinsonism-17. …”
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Phase Ib study of pembrolizumab in combination with trastuzumab emtansine for metastatic HER2-positive breast cancer by Sara M Tolaney, Tianyu Li, Edward T Richardson, Judith Agudo, Elizabeth A Mittendorf, Beth Overmoyer, Eric P Winer, Adrienne G Waks, Tanya E Keenan, Nabihah Tayob, Gerburg M Wulf, Victoria Attaya, Leilani Anderson, Ian E Krop, Eliezer M Van Allen

“…Immune biomarkers were assessed using histology, protein/RNA expression, and whole exome sequencing. Associations between immune biomarkers and treatment response, and biomarker changes before and during treatment, were explored.Results 20 patients received protocol therapy. …”
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Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival by Anna Darlene van der Heiden, Raphaela Pensch, Sophie Agger, Heather L. Gardner, William Hendricks, Victoria Zismann, Shukmei Wong, Natalia Briones, Bryce Turner, Karin Forsberg-Nilsson, Cheryl London, Kerstin Lindblad-Toh, Maja Louise Arendt

“…While previous studies on canine DLBCL (cDLBCL) have significantly advanced our understanding of the disease, the majority of this research has relied on whole-exome sequencing, which is limited in its ability to detect copy number aberrations and other genomic changes beyond coding regions. …”
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Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder by Ming Li, Jingqi Lin, Hongjun Fei, Jinyu Liu, Yiyao Chen, Xu Han, Yanlin Wang, Jian Wang, Renyi Hua, Shuyuan Li, Niu Li

“…Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopmental disorder, and to investigate the genotype-phenotype characteristics associated with SMARCC2 variants. Methods Whole-exome sequencing (WES) was conducted on the proband, and candidate variants were validated using Sanger sequencing within the family. …”
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Genetic counselling in the era of next generation sequencing by Diego Espada-Musitu, África Manero-Azua, Yerai Vado, Guiomar Perez de Nanclares

“…Advances in next-generation sequencing (NGS) technologies have made the detection of the molecular causes of paediatric diseases increasingly affordable, accessible and rapid. While exome sequencing and genome sequencing were until recently only available for research, they are now used in health care practice. …”
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Genetic and biochemical analysis of severe hypertriglyceridemia complicated with acute pancreatitis or with low post-heparin lipoprotein lipase mass by Takashi Suzuki, Makoto Kurano, Akari Isono, Takuya Uchino, Yohei Sayama, Honami Tomomitsu, Daiki Mayumi, Ruriko Shibayama, Toru Sekiguchi, Naoki Edo, Kiyoko Uno-Eder, Kenji Uno, Koji Morita, Toshio Ishikawa, Kazuhisa Tsukamoto

“…Severe hypertriglyceridemia is a pathological condition caused by genetic factors alone or in combination with environmental factors, sometimes leading to acute pancreatitis (AP). In this study, exome sequencing and biochemical analyses were performed in 4 patients with hypertriglyceridemia complicated by obesity or diabetes with a history of AP or decreased post-heparin LPL mass. …”
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A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability by Xiujuan Yang, Zhongzhi Gan, Xiaoling Guo, Xiang Huang, Juan Liu, Yingchun Zheng, Xiaoqiang Zhou, Jingli Lian, Yue Liu, Tingting Yang, Chao Li, Fenying Chen, Fei He, Xiangmin Xu, Yasi Zhou, Qian Liu, Xingkun Yang, Fu Xiong

“…Materials and methods The family underwent a clinical assessment of intellectual development, which included precise clinical exome sequencing to identify causative genetic variants. …”
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The SERPINB4 gene mutation identified in twin patients with Crohn’s disease impaires the intestinal epithelial cell functions by Xiao-Mei Ouyang, Jun-Hui Lin, Ying Lin, Xian-Ling Zhao, Ya‐Ni Huo, Lai-Ying Liang, Yong-Dong Huang, Gui-Jing Xie, Peng Mi, Zhen-Yu Ye, Bayasi Guleng

“…To identify new targets related to the initiation of CD, we screened a pair of twins with CD, which is a rare phenomenon in the Chinese population, for genetic susceptibility factors. Whole-exome sequencing (WES) of these patients revealed a mutation in their SERPINB4 gene. …”
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IQUB mutation induces radial spoke 1 deficiency causing asthenozoospermia with normal sperm morphology in humans and mice by Tingwenyi Hu, Xiangrong Tang, Tiechao Ruan, Shunhua Long, Guicen Liu, Jing Ma, Xueqi Li, Ruoxuan Zhang, Guoning Huang, Ying Shen, Tingting Lin

“…Genetic mutations were identified by whole-exome sequencing. Computer-aided sperm analysis, Papanicolaou staining, and electron microscopy were applied to evaluate the motility, morphology, and ultrastructure of spermatozoa, respectively. …”
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Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter by Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, Ohad S. Birk

“…Combining homozygosity mapping and exome sequencing studies of consanguineous Bedouin kindred, as well as transfection experiments and zinc monitoring in HEK293 cells, we demonstrate that a bi‐allelic in‐frame 3bp deletion variant in SLC30A5, deleting isoleucine within the highly conserved cation efflux domain of the encoded ZnT5, results in lower cytosolic zinc concentrations, causing a syndrome of severe non‐progressive neonatal axial and limb hypotonia with high‐arched palate and respiratory failure. …”
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Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling by Katherine A. Kentistou, Brandon E. M. Lim, Lena R. Kaisinger, Valgerdur Steinthorsdottir, Luke N. Sharp, Kashyap A. Patel, Vinicius Tragante, Gareth Hawkes, Eugene J. Gardner, Thorhildur Olafsdottir, Andrew R. Wood, Yajie Zhao, Gudmar Thorleifsson, Felix R. Day, Susan E. Ozanne, Andrew T. Hattersley, Stephen O’Rahilly, Kari Stefansson, Ken K. Ong, Robin N. Beaumont, John R. B. Perry, Rachel M. Freathy

“…We report analyses of rare variants that impact birth weight when carried by either fetus or mother, using whole exome sequencing data in up to 234,675 participants. Rare protein-truncating and deleterious missense variants are collapsed to perform gene burden tests. …”
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Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking by Xiao-Yao Li, Bei-Yuan Zhang, Xin-Ran Liang, Yan-Yu Han, Min-Hua Cheng, Mei Wei, Ke Cao, Xian-Cheng Chen, Ming Chen, Jian-Feng Duan, Wen-Kui Yu

“…In the present study, we described the clinical and functional analyses of a novel GPD1 missense variant in a Chinese adult patient with recurrent hypertriglyceridemia‑related acute pancreatitis (HTG-AP), consuming a high-fat diet and smoking heavily. Methods Exome sequencing was used to analyze the DNA of the adult patient’s blood sample. …”
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A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases by Anthony C. Nichols, Michelle Chan-Seng-Yue, John Yoo, Sumit K. Agrawal, Maud H. W. Starmans, Daryl Waggott, Nicholas J. Harding, Samuel A. Dowthwaite, David A. Palma, Kevin Fung, Bret Wehrli, S. Danielle MacNeil, Philippe Lambin, Eric Winquist, James Koropatnick, Joe S. Mymryk, Paul C. Boutros, John W. Barrett

“…The primary tumor and blood underwent exome sequencing which revealed deletions in CDKN2A as well as PPP1R13B, which induces p53. …”
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Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families by Bin Mao, Xiaoling Cai, Na Lin, Yulin Jiang, Na Hao, Yifang Dai, Danhua Guo, Deqin He, Huili Xue, Lingji Chen, Qianqian He, Min Zhang, Meihuan Chen, Hailong Huang, Liangpu Xu

“…Methods Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes. Whole exome sequencing was used to screen for prospective variants responsible for muscular diseases, followed by co-segregation analysis in the families and prenatal diagnosis via Sanger sequencing, if appropriate. …”
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Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3 by Haixia Zheng, Chongsheng Cheng, Miao He, Wangji Zhou, Yixuan Li, Jinrong Dai, Ting Zhang, Kai‐Feng Xu, Xue Zhang, Xinlun Tian, Yaping Liu

“…While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge. Methods Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD. …”
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Atezolizumab plus bevacizumab in patients with unresectable or metastatic mucosal melanoma: 3‐year survival update and multi‐omics analysis by Jie Dai, Tianxiao Xu, Lifeng Li, Meiyu Fang, Jing Lin, Jun Cao, Xue Bai, Caili Li, Xiaoting Wei, Junjie Gu, Yaoyao Liu, Xuan Gao, Xuefeng Xia, Jun Guo, Yu Chen, Lili Mao, Lu Si

“…Available samples underwent whole exome sequencing, transcriptome sequencing and targeted bisulphite sequencing to assess correlations with clinical outcomes. …”
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Clonal hematopoiesis of indeterminate potential is a risk factor of gastric cancer: A Prospective Cohort in UK Biobank study by Zhihui Xi, Huolun Feng, Kunling Chen, Xin Guo, Dandan Zhu, Jiabin Zheng, Yong Li

“…Exposures: Whole-exome sequencing was performed on blood samples collected at baseline. …”
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Multiomics profiling reveals the benefits of gamma-delta (γδ) T lymphocytes for improving the tumor microenvironment, immunotherapy efficacy and prognosis in cervical cancer by Xiaofeng Wang, Chen Li, Jie Chen, Zhiqiang Wu, Zhen Zhang, Junyi Li, Lu Yu, Yong Guan, Yuhan Zhang, Yuanjie Cao, Yancheng Liu, Hui Bai, Shaochuan Liu, Miaomiao Gao, Chenglu Lu, Zhen Tao, Zhiyong Yuan

“…As the cervix is a mucosa-rich tissue, the role of γδ T cells in cervical cancer warrants further investigation.Methods We employed a multiomics strategy that integrated abundant data from single-cell and bulk transcriptome sequencing, whole exome sequencing, genotyping array, immunohistochemistry, and MRI.Results Heterogeneity was observed in the level of γδ T-cell infiltration in cervical cancer tissues, mainly associated with the tumor somatic mutational landscape. …”
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Genetic characteristics involving the PD-1/PD-L1/L2 and CD73/A2aR axes and the immunosuppressive microenvironment in DLBCL by Tingting Zhang, Zhenzhen Zhang, Xiubao Ren, Jin He, Zhengzi Qian, Bin Meng, Lei Jiao, Hengqi Liu, Lanfang Li, Lihua Qiu, Shiyong Zhou, Wenchen Gong, Huilai Zhang, Xianhuo Wang

“…The genetic characteristics of these immune checkpoints need to be further investigated in diffuse large B-cell lymphoma (DLBCL).Methods We performed whole-exome sequencing/targeted deep sequencing to investigate the genetic characteristics of PD-1/PD-L1/L2 and CD73/A2aR. …”
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Comparison of differences in transcriptional and genetic profiles between intra-central nervous system and extra-central nervous system large B-cell lymphoma by Shu Wang, Hong Chen, Bo Dai, Kang Zheng, Jiajun Zheng, Yuqi Zhu, Yan Yuan, Tianling Ding, Qian Wang, Liqian Xie, Rui Feng, Fengping Zhu, Jianbin Xiang, Weiqun Ding, Hong Ding, Yuan Li, Xiaodong Gu, Kunpeng Wu, Yifan Yuan, Jianping Song, Dongxiao Zhuang, Haoshu Zhong, Hanfeng Wu, Ying Mao, Tong Chen

“…By performing whole-exome sequencing in 93 patients, mutations enriched in BCR-NFkB and TLR pathways and the cooperation of these two pathways were found to be predominant in PCNS-DLBCL comparing to nonGCB-ecDLBCL. …”
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