Comparison of characteristics and immune responses between paired human nasal and bronchial epithelial organoids by Lu Zhu, Wenhao Yang, Jiaxin Luo, Danli Lu, Yanan Hu, Rui Zhang, Yan Li, Li Qiu, Zelian Chen, Lina Chen, Hanmin Liu

“…Histologic examination of nasal organoid tissue revealed high similarity and a reduced ciliary beat frequency compared to bronchial organoid tissue. Whole exome sequencing revealed that over 99% of single nucleotides were shared between the NO and matched BO and there was a 95% overlap in their RNA transcriptomes. …”
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Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature by Yimo Zeng, Rong Hu, Jian Lu, Yiming Qi, Dan Chen, Chaoxiang Yang, Jing Wu

“…All these patients underwent chromosomal microarray and/or karyotyping, and 37 cases also underwent whole exome sequencing (WES). Two hundred and eight cases were followed up for postnatal outcomes. …”
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Disease-associated genetic variants in the regulatory regions of human genes: mechanisms of action on transcription and genomic resources for dissecting these mechanisms by E. V. Ignatieva, E. A. Matrosova

“…Whole genome and whole exome sequencing technologies play a very important role in the studies of the genetic aspects of the pathogenesis of various diseases. …”
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Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants by Xue Fan, Zhen Li, Lingzhi Sha, Xunlun Sheng, Weining Rong

“…Abstract In this study, patients with inherited retinal dystrophies (IRDs) who visited Ningxia Eye Hospital from January 2015 to September 2023 were analyzed. Through Whole Exome Sequencing (WES) and Sanger verification, 17 probands carrying homozygous variants were detected. …”
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A Rare Case of Severe Congenital RYR1-Associated Myopathy by Nicola Laforgia, Manuela Capozza, Lucrezia De Cosmo, Antonio Di Mauro, Maria Elisabetta Baldassarre, Francesca Mercadante, Anna Laura Torella, Vincenzo Nigro, Nicoletta Resta

“…The diagnostic procedure was completed with the complete exome sequencing of the proband and of his parents and his sister, which showed new mutations in the ryanodine receptor gene (RYR1), which maps to chromosome 19q13.2 and encodes the skeletal muscle isoform of a calcium-release channel in the sarcoplasmic reticulum (RyR1). …”
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A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family by Shaoyi Mei, Xiaosheng Huang, Lin Cheng, Shiming Peng, Tianhui Zhu, Liang Chen, Yan Wang, Jun Zhao

“…Four affected family members and one unaffected family member were selected for whole exome sequencing. Sanger sequencing was used to confirm and screen the identified mutation in 18 members of the family. …”
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A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II by Sen Chen, Yuan Jin, Le Xie, Wen Xie, Kai Xu, Yue Qiu, Xue Bai, Hui-Min Zhang, Xiao-Zhou Liu, Xiao-Hui Wang, Wei-Jia Kong, Yu Sun

“…We report the case of a proband in a Chinese family who was diagnosed with WS type II. Whole exome sequencing (WES) of the proband detected a novel heterozygous spontaneous mutation: SOX10 c.246delC. …”
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A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient by Li Yang, Xingyu Wan, Ran Hua, Junhong Jiang, Baotian Wang, Rui Tao, De Wu

“…Methods Genetic diagnosis was performed using trio‐whole exome sequencing, followed by bioinformatics predictions of pathogenicity. …”
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Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome by Li Huang, Limei Sun, Zhirong Wang, Songshan Li, Chonglin Chen, Xiaoling Luo, Xiaoyan Ding

“…Family A was a four-generation family with four affected and 15 unaffected members participating in the study, and family B was a consanguineous family with one affected and three unaffected members participating. Whole exome sequencing was performed in the two families, followed by a multistep bioinformatics analysis. …”
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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

“…Polygenic risk score analysis was further incorporated using a model for female breast cancer with 2666 noncancer controls. Exome sequencing was used to transition from germline to somatic investigations, assessing second-hit variant and mutational signatures. …”
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Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan by Asif Jan, Muhammad Saeed, Muhammad Hussain Afridi, Fazli Khuda, Muhammad Shabbir, Hamayun Khan, Sajid Ali, Muhammad Hassan, Samiullah, Rani Akbar, Zakiullah

“…In the first phase of the study, whole exome sequencing (WES) of 2 pooled DNA samples was carried out, and DNA pools used were constructed from 100 diabetic cases and 100 control subjects. …”
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Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families by Shanshan Gao, Duo Chen, Qianqian Li, Xuechao Zhao, Chen Chen, Lina Liu, Miao Jiang, Zhenhua Zhao, Yanhua Wang, Xiangdong Kong

“…Various molecular techniques, including multiplex ligation-dependent probe amplification analysis, long-range polymerase chain reaction (PCR) combined with nested PCR, Sanger sequencing, and whole-exome sequencing were employed to establish a thorough genetic variant profile in 680 Chinese pedigrees with clinically suspected SMA. …”
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Prognosis conferred by molecular features of appendix-derived Pseudomyxoma Peritonei by Ruiqing Ma, Guojun Li, Yingjiang Ye, Lei Liang, Chong Wang, Haipeng Zhou, Pu Zhang, Lubiao An, Guanjun Shi, Qian Chen, Hongbin Xu, Zhidong Gao

“…We investigated the prognostic value for response to cytoreductive surgery (CRS) or hyperthermic intraperitoneal chemotherapy (HIPEC) and dissected potential beneficial targeted therapy utilizing genomic characteristics. Methods: Whole-exome sequencing (WES) was performed on tissue specimens and matched white blood cells from 81 patients with PMP. …”
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Preclinical evaluation of avutometinib and defactinib in high‐grade endometrioid endometrial cancer by Tobias Max Philipp Hartwich, Miranda Mansolf, Cem Demirkiran, Michelle Greenman, Stefania Bellone, Blair McNamara, Shuvro P. Nandi, Ludmil B. Alexandrov, Yang Yang‐Hartwich, Silvia Coma, Jonathan Pachter, Alessandro D. Santin

“…As EAC may harbor mutations in the RAS/MAPK pathways, we evaluated the preclinical in vitro and in vivo efficacy of avutometinib, a RAF/MEK clamp, in combination with the focal adhesion kinase (FAK) inhibitors defactinib or VS‐4718, against multiple primary EAC cell lines and xenografts. Methods Whole‐exome sequencing (WES) was used to evaluate the genetic landscape of five primary EAC cell lines. …”
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Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma by Luigia Cinque, Flavia Pugliese, Celeste Clemente, Stefano Castellana, Maria Pia Leone, Danilo de Martino, Teresa Balsamo, Claudia Battista, Tommaso Biagini, Paolo Graziano, Marco Castori, Alfredo Scillitani, Vito Guarnieri

“…CDC73 gene was screened at germline and somatic levels with no results. Whole exome sequencing performed on DNA extracted from blood leukocytes and tumour tissue revealed a somatic MEN1 gene heterozygous variant, c.912+1G > A, of the splicing donor site of exon 6. …”
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Mutation in the COL2A1 gene is associated with acetabular dysplasia by Miaomiao Xin, Xin Guan, Xin Guan, Jiangfei Yang, Yi Li, Zhentao Man, Hongsheng Sun, Min Fu

“…Genomic DNA was extracted, and polymerase chain reaction (PCR) amplification was performed. Clinical whole-exome sequencing (WES) using next-generation sequencing (NGS) was conducted to identify potential mutation sites, which were then validated through Sanger sequencing. …”
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A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review by Ying Yang, Liqing Chen, Zhenzhen Wang, Yaling Ding, Yan Liu

“…Results A 5‐year‐6‐month‐old female patient presented with facial features, double outlet right ventricle (DORV), and recurrent epilepsy. Whole exome sequencing (WES) identified a de novo heterozygous frameshift mutation, c.2890_2893del (p.Ser964Valfs*26), in the SMC1A gene. …”
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Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15 by Jianyan Pan, Hua Teng, Fang Liu, Siyi Chen, Yaning Liu, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu

“…A novel mutation (c.706 C > T, p.L236F) was identified by the whole exome sequencing, and its pathogenicity was confirmed by altering the subcellular localization of POU4F3. …”
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Molecular characterization of EBV-associated primary pulmonary lymphoepithelial carcinoma by multiomics analysis by Meiling Yang, Guixian Zheng, Fukun Chen, Haijuan Tang, Yaoyao Liu, Xuan Gao, Yu Huang, Zili Lv, Benhua Li, Maolin Yang, Qing Bu, Lixia Zhu, Pengli Yu, Zengyu Huo, Xinyan Wei, Xiaoli Chen, Yanbing Huang, Zhiyi He, Xuefeng Xia, Jing Bai

“…Methods In this study, we explored pLEC using whole-exome sequencing (WES) and RNA-whole-transcriptome sequencing (RNA-seq) technologies. …”
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Case report: Novel ACTN4 variant of uncertain significance in a pediatric case of steroid-resistant nephrotic syndrome requesting kidney transplantation by Ignacio Alarcón, Carolina Peralta, Francisco Cammarata-Scalisi, Maykol Araya Castillo, Francisco Cano, Francisco Cano, Angélica Rojo, María Luisa Ceballos, María Luisa Ceballos, Paola Krall, Paola Krall

“…At the age of 12, he reached ESKD and initiated peritoneal dialysis, experiencing an episode of posterior reversible encephalopathy syndrome. Exome sequencing identified a novel variant of uncertain significance (VUS), ACTN4 c.625_633del that predicted the in-frame deletion p.L209_E211del in a highly conserved functional domain. …”
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