A systematic analysis of deep learning in genomics and histopathology for precision oncology
Digitized histopathological tissue slides and genomics profiling data are available for many patients with solid tumors. In the last 5 years, Deep Learning (DL) has been broadly used to extract clinically acti... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - February 5, 2024 Category: Genetics & Stem Cells Authors: Michaela Unger and Jakob Nikolas Kather Tags: Research Source Type: research

Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification
Mutations in fibrillin-1 (FBN1) are known to be associated with Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Most FBN1 mutations are missense or nonsense mutations. Traditional molecul... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - February 5, 2024 Category: Genetics & Stem Cells Authors: Xinxin Lu, Ren Wang, Mingjie Li, Biao Zhang, Huiying Rao, Xiaoli Huang, Xijun Chen and Yan ’an Wu Tags: Research Source Type: research

BNIPL is a promising biomarker of laryngeal cancer: novel insights from bioinformatics analysis and experimental validation
Laryngeal cancer (LC) is a malignant tumor with high incidence and mortality. We aim to explore key genes as novel biomarkers to find potential target of LC in clinic diagnosis and treatment. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - February 1, 2024 Category: Genetics & Stem Cells Authors: Rui Wang, Ying Gao, Shuxin Wen and Xiudong Guo Tags: Research Source Type: research

A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family
To analyze the clinical phenotype and genetic characteristics of a female proband carrying a novel mutation in the DMD gene with non-random X-chromosome inactivation in a large pedigree with pseudohypertrophic mu... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - February 1, 2024 Category: Genetics & Stem Cells Authors: Ming-Xia Sun, Miao Jing, Ying Hua, Jian-Biao Wang, Sheng-Quan Wang, Li-Lan Chen, Liang Ju and Yan-Shan Liu Tags: Research Source Type: research

Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation
ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts, among which autosomal recessive Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 31, 2024 Category: Genetics & Stem Cells Authors: Qiang Zhang, Qi Yang, Jingsi Luo, Xunzhao Zhou, Shang Yi, Shuyin Tan and Zailong Qin Tags: Research Source Type: research

Behavioral variant frontotemporal dementia associated with GRN and ErbB4 gene mutations: a case report and literature review
To report the clinical manifestation and genetic characteristics of a patient having frontotemporal dementia (FTD) with abnormal behavior and unstable walking. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 30, 2024 Category: Genetics & Stem Cells Authors: Youde Cai, Zhongyong Peng, Qiansong He and Ping Sun Tags: Case Report Source Type: research

Identification of a hub gene VCL for atherosclerotic plaques and discovery of potential therapeutic targets by molecular docking
This study identified a hub gene VCL for atherosclerotic ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 29, 2024 Category: Genetics & Stem Cells Authors: Chong Wu, Wei Li, Panfeng Li and Xiaoyang Niu Tags: Research Source Type: research

Chronic osteomyelitis risk is associated with NLRP3 gene rs10754558 polymorphism in a Chinese Han Population
Single nucleotide polymorphisms (SNPs) in the nucleotide-binding domain leucine-rich repeat protein-3 (NLRP3) gene are reported to be linked to many inflammatory disorders. However, uncertainty persists over the ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 29, 2024 Category: Genetics & Stem Cells Authors: Yu-dun Qu, Nan Jiang, Jia-xuan Li, Wei Zhang, Chang-liang Xia, Shuan-ji Ou, Yang Yang, Yun-fei Ma, Yong Qi and Chang-peng Xu Tags: Research Source Type: research

Whole genome sequencing in clinical practice
Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of actionable cancer drivers. Compared to other molecular gene... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 29, 2024 Category: Genetics & Stem Cells Authors: Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama and Finn Cilius Nielsen Tags: Review Source Type: research

Association of IL-10 –592 C  >  A /-1082 A  >  G and the TNFα -308 G  >  A with susceptibility to COVID-19 and clinical outcomes
Variation in host immune responses to SARS-CoV-2 is regulated by multiple genes involved in innate viral response and cytokine storm emergence like IL-10 and TNFa gene polymorphisms. We hypothesize that IL-10; -5... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 29, 2024 Category: Genetics & Stem Cells Authors: Raghda E. Eldesouki, Rania M. Kishk, Noha M. Abd El-Fadeal, Rama I Mahran, Noha Kamel, Eman Riad, Nader Nemr, Safaa M. Kishk and Eman Abdel-Moemen Mohammed Tags: Research Source Type: research

Integrative HLA typing of tumor and adjacent normal tissue can reveal insights into the tumor immune response
The HLA complex is the most polymorphic region of the human genome, and its improved characterization can help us understand the genetics of human disease as well as the interplay between cancer and the immune... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 27, 2024 Category: Genetics & Stem Cells Authors: Angelina Sverchkova, Scott Burkholz, Reid Rubsamen, Richard Stratford and Trevor Clancy Tags: Research Source Type: research

Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications
Idiopathic congenital nystagmus (ICN) manifests as involuntary and periodic eye movements. To identify the genetic defect associated with X-linked ICN, Whole Exome Sequencing (WES) was conducted in two affecte... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 26, 2024 Category: Genetics & Stem Cells Authors: Yuqing Su, Juntao Zhang, Jiahui Gao, Guoqing Ding, Heng Jiang, Yang Liu, Yulei Li and Guohua Yang Tags: Research Source Type: research

Preliminary study of the effect of gut microbiota on the development of prostatitis
Dysbacteriosis of intestinal tract may cause systemic inflammation, making distant anatomical locations more susceptible to illness. Recent research has demonstrated that the microbiome can affect both prostat... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 25, 2024 Category: Genetics & Stem Cells Authors: Cheng Shen, Zhan Chen, Wei Zhang, Xinfeng Chen, Bing Zheng and Chunmei Shi Tags: Research Source Type: research

Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study
Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clini... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 24, 2024 Category: Genetics & Stem Cells Authors: Ruijue Zhu, Mingming Zhu, Boye Wang, Enen Chen, Danlei Cai, Yinghong Yang, Yi Liang, Chuqi Su, Ding Wang, Xiaofang Sun, Linhuan Huang and Yingjun Xie Tags: Research Source Type: research

Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing
Preimplantation genetic testing for monogenic disorders (PGT-M) has been used for over 20 years to detect many serious genetic conditions. However, there is still a lack of reference materials (RMs) to validat... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 23, 2024 Category: Genetics & Stem Cells Authors: Weihua Zhao, Yanyan Song, Chuanfeng Huang, Shan Xu, Qi Luo, Runsi Yao, Nan Sun, Bo Liang, Jia Fei, Fangfang Gao, Jie Huang and Shoufang Qu Tags: Research Source Type: research