Fusion transcript detection using spatial transcriptomics
Fusion transcripts are involved in tumourigenesis and play a crucial role in tumour heterogeneity, tumour evolution and cancer treatment resistance. However, fusion transcripts have not been studied at high sp... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 4, 2020 Category: Genetics & Stem Cells Authors: Stefanie Friedrich and Erik L. L. Sonnhammer Tags: Technical advance Source Type: research

A novel use for Levey-Jennings charts in prenatal molecular diagnosis
The goal of this study was to determine whether Levey-Jennings charts, which are widely used in clinical laboratories, can be used to create standardized internal quality controls (IQCs) for prenatal molecular... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 31, 2020 Category: Genetics & Stem Cells Authors: Binghuan Weng, Ya-li Xu, Jun Ying, Hao-kun Yang, Lan Su, Yan-mei Yang and Min Chen Tags: Research article Source Type: research

Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics
We have evaluated an NGS-based method to detect recurrent gene fusions of diagnostic and prognostic importance in hematological malignancies. Our goal was to achieve a highly specific assay with a simple workf... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 29, 2020 Category: Genetics & Stem Cells Authors: Marie Engvall, Nicola Cahill, Britt-Inger Jonsson, Martin H öglund, Helene Hallböök and Lucia Cavelier Tags: Research article Source Type: research

Analysis of exosomal circRNAs upon irradiation in pancreatic cancer cell repopulation
Pancreatic cancer is one of the most malignant tumors. However, radiotherapy can lead to tumor recurrence, which is caused by the residual surviving cells repopulation stimulated by some molecular released fro... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 29, 2020 Category: Genetics & Stem Cells Authors: Yi-yun Chen, Ming-jie Jiang and Ling Tian Tags: Research article Source Type: research

Integration analysis of long non-coding RNA (lncRNA) role in tumorigenesis of colon adenocarcinoma
Colon adenocarcinoma (COAD) is one of the most common gastrointestinal cancers globally. Molecular aberrations of tumor suppressors and/or oncogenes are the main contributors to tumorigenesis. However, the exa... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 29, 2020 Category: Genetics & Stem Cells Authors: Arash Poursheikhani, Mohammad Reza Abbaszadegan, Negin Nokhandani and Mohammad Amin Kerachian Tags: Research article Source Type: research

Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records
Obstructive sleep apnea (OSA) is defined by frequent episodes of reduced or complete cessation of airflow during sleep and is linked to negative health outcomes. Understanding the genetic factors influencing e... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 25, 2020 Category: Genetics & Stem Cells Authors: Olivia J. Veatch, Christopher R. Bauer, Brendan T. Keenan, Navya S. Josyula, Diego R. Mazzotti, Kanika Bagai, Beth A. Malow, Janet D. Robishaw, Allan I. Pack and Sarah A. Pendergrass Tags: Research article Source Type: research

Privately computing set-maximal matches in genomic data
Finding long matches in deoxyribonucleic acid (DNA) sequences in large aligned genetic sequences is a problem of great interest. A paradigmatic application is the identification of distant relatives via large ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 21, 2020 Category: Genetics & Stem Cells Authors: Katerina Sotiraki, Esha Ghosh and Hao Chen Tags: Research Source Type: research

Using blockchain to log genome dataset access: efficient storage and query
Genomic variants are considered sensitive information, revealing potentially private facts about individuals. Therefore, it is important to control access to such data. A key aspect of controlled access is sec... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 21, 2020 Category: Genetics & Stem Cells Authors: Gamze G ürsoy, Robert Bjornson, Molly E. Green and Mark Gerstein Tags: Research Source Type: research

Leveraging blockchain for immutable logging and querying across multiple sites
Blockchain has emerged as a decentralized and distributed framework that enables tamper-resilience and, thus, practical immutability for stored data. This immutability property is important in scenarios where ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 21, 2020 Category: Genetics & Stem Cells Authors: Mustafa Safa Ozdayi, Murat Kantarcioglu and Bradley Malin Tags: Research Source Type: research

Privacy-preserving semi-parallel logistic regression training with fully homomorphic encryption
Privacy-preserving computations on genomic data, and more generally on medical data, is a critical path technology for innovative, life-saving research to positively and equally impact the global population. I... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 21, 2020 Category: Genetics & Stem Cells Authors: Sergiu Carpov, Nicolas Gama, Mariya Georgieva and Juan Ramon Troncoso-Pastoriza Tags: Research Source Type: research

Decentralized genomics audit logging via permissioned blockchain ledgering
One of the tasks in the iDASH Secure Genome Analysis Competition in 2018 was to develop blockchain-based immutable logging and querying for a cross-site genomic dataset access audit trail. The specific challen... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 21, 2020 Category: Genetics & Stem Cells Authors: Nicholas D. Pattengale and Corey M. Hudson Tags: Research Source Type: research

Identification of potential crucial genes in atrial fibrillation: a bioinformatic analysis
Atrial fibrillation (AF) is at least partially heritable, affecting 2 –3% of the population in Europe and the USA. However, a substantial proportion of heritability is still lacking. In the present study, we ai... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 18, 2020 Category: Genetics & Stem Cells Authors: Junguo Zhang, Xin Huang, Xiaojie Wang, Yanhui Gao, Li Liu, Ziyi Li, Xuejiao Chen, Jie Zeng, Zebing Ye and Guowei Li Tags: Research article Source Type: research

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
In this study, we tried to compare the hit rate between solo and trio and trio plus testing and between trio and sibship testing. Fi... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 17, 2020 Category: Genetics & Stem Cells Authors: Ahmed Alfares, Lamia Alsubaie, Taghrid Aloraini, Aljoharah Alaskar, Azza Althagafi, Ahmed Alahmad, Mamoon Rashid, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Faroug Ababneh, Mohammed Albalwi, Raniah Alotaibi, Mashael Almutairi, Nouf Altharawi, Alhanou Tags: Research article Source Type: research

Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens
Liquid-based cytology (LBC) is now a widely used method for cytologic screening and cancer diagnosis. Since the cells are fixed with alcohol-based fixatives, and the specimens are stored in a liquid condition,... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 11, 2020 Category: Genetics & Stem Cells Authors: Toshiaki Akahane, Ikumi Kitazono, Shintaro Yanazume, Masaki Kamio, Shinichi Togami, Ippei Sakamoto, Sachio Nohara, Seiya Yokoyama, Hiroaki Kobayashi, Tsubasa Hiraki, Shinsuke Suzuki, Shinichi Ueno and Akihide Tanimoto Tags: Research article Source Type: research

Genome-wide identification of methylated CpG sites in nongenital cutaneous warts
Low-risk HPV infection has not been the subject of epigenetic investigation. The present study was carried out in order to investigate the methylation status of CpG sites in non-genital cutaneous warts. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 8, 2020 Category: Genetics & Stem Cells Authors: Laith N. AL-Eitan, Mansour A. Alghamdi, Amneh H. Tarkhan and Firas A. Al-Qarqaz Tags: Research article Source Type: research

Mitochondrial GWAS and association of nuclear – mitochondrial epistasis with BMI in T1DM patients
BMI is a strong indicator of complications from type I diabetes, especially under intensive treatment. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 7, 2020 Category: Genetics & Stem Cells Authors: Agnieszka H. Ludwig-S łomczyńska, Michał T. Seweryn, Przemysław Kapusta, Ewelina Pitera, Samuel K. Handelman, Urszula Mantaj, Katarzyna Cyganek, Paweł Gutaj, Łucja Dobrucka, Ewa Wender-Ożegowska, Maciej T. Małecki and Paweł P. Wołkow Tags: Research article Source Type: research

Comparative analysis of somatic variant calling on matched FF and FFPE WGS samples
Research grade Fresh Frozen (FF) DNA material is not yet routinely collected in clinical practice. Many hospitals, however, collect and store Formalin Fixed Paraffin Embedded (FFPE) tumor samples. Consequently... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 6, 2020 Category: Genetics & Stem Cells Authors: Louise de Schaetzen van Brienen, Maarten Larmuseau, Kim Van der Eecken, Frederic De Ryck, Pauline Robbe, Anna Schuh, Jan Fostier, Piet Ost and Kathleen Marchal Tags: Research article Source Type: research

Statistical driver genes as a means to uncover missing heritability for age-related macular degeneration
Age-related macular degeneration (AMD) is a progressive retinal disease contributing to blindness worldwide. Multiple estimates for AMD heritability (h2) exist; however, a substantial proportion of h2 is not attr... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 6, 2020 Category: Genetics & Stem Cells Authors: Andrea R. Waksmunski, Michelle Grunin, Tyler G. Kinzy, Robert P. Igo Jr, Jonathan L. Haines and Jessica N. Cooke Bailey Tags: Research article Source Type: research

A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report
Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13). NIPT has high sensitivity and high sp... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 6, 2020 Category: Genetics & Stem Cells Authors: Hui-Hui Xu, Mei-Zhen Dai, Kai Wang, Yang Zhang, Fei-Yan Pan and Wei-Wu Shi Tags: Case report Source Type: research

Analysis of H3K4me3 and H3K27me3 bivalent promotors in HER2+ breast cancer cell lines reveals variations depending on estrogen receptor status and significantly correlates with gene expression
The role of histone modifications is poorly characterized in breast cancer, especially within the major subtypes. While epigenetic modifications may enhance the adaptability of a cell to both therapy and the s... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 3, 2020 Category: Genetics & Stem Cells Authors: Damien Kaukonen, Riina Kaukonen, L élia Polit, Bryan T. Hennessy, Riikka Lund and Stephen F. Madden Tags: Research article Source Type: research

Weighted correlation network bioinformatics uncovers a key molecular biosignature driving the left-sided heart failure
Left-sided heart failure (HF) is documented as a key prognostic factor in HF. However, the relative molecular mechanisms underlying left-sided HF is unknown. The purpose of this study is to unearth significant... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 3, 2020 Category: Genetics & Stem Cells Authors: Jiamin Zhou, Wei Zhang, Chunying Wei, Zhiliang Zhang, Dasong Yi, Xiaoping Peng, Jingtian Peng, Ran Yin, Zeqi Zheng, Hongmei Qi, Yunfeng Wei and Tong Wen Tags: Research article Source Type: research

Genetic colocalization atlas points to common regulatory sites and genes for hematopoietic traits and hematopoietic contributions to disease phenotypes
Genetic associations link hematopoietic traits and disease end-points, but most causal variants and genes underlying these relationships are unknown. Here, we used genetic colocalization to nominate loci and g... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 29, 2020 Category: Genetics & Stem Cells Authors: Christopher S. Thom and Benjamin F. Voight Tags: Research article Source Type: research

Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
Oesophageal atresia (OA) is a life-threatening developmental defect characterized by a lost continuity between the upper and lower oesophagus. The most common form is a distal connection between the trachea an... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 26, 2020 Category: Genetics & Stem Cells Authors: Joakim Klar, Helene Engstrand-Lilja, Khurram Maqbool, Jonas Mattisson, Lars Feuk and Niklas Dahl Tags: Research article Source Type: research

Integrative analyses of gene expression profile reveal potential crucial roles of mitotic cell cycle and microtubule cytoskeleton in pulmonary artery hypertension
Pulmonary arterial hypertension (PAH) is a life-threatening condition. The aim of this study was to explore potential crucial genes and pathways associated with PAH based on integrative analyses of gene expres... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 26, 2020 Category: Genetics & Stem Cells Authors: Jing Luo, Haiyan Li, Zhenwei Liu, Chenlu Li, Ruochen Wang, Jinxia Fang, Saisai Lu, Jing Guo, Xiaochun Zhu and Xiaobing Wang Tags: Research article Source Type: research

Long non-coding RNA profiling of pediatric Medulloblastoma
Medulloblastoma (MB) is one of the most common malignant cancers in children. MB is primarily classified into four subgroups based on molecular and clinical characteristics as (1) WNT (2) Sonic-hedgehog (SHH) ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 26, 2020 Category: Genetics & Stem Cells Authors: Varun Kesherwani, Mamta Shukla, Don W. Coulter, J. Graham Sharp, Shantaram S. Joshi and Nagendra K. Chaturvedi Tags: Research article Source Type: research

Construction and analysis of a lncRNA-miRNA-mRNA network based on competitive endogenous RNA reveal functional lncRNAs in oral cancer
A growing evidence suggests that long non-coding RNAs (lncRNAs) can function as a microRNA (miRNA) sponge in various diseases including oral cancer. However, the pathophysiological function of lncRNAs remains ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 22, 2020 Category: Genetics & Stem Cells Authors: Junhao Yin, Xiaoli Zeng, Zexin Ai, Miao Yu, Yang ’ou Wu and Shengjiao Li Tags: Research article Source Type: research

Leukocyte telomere length in patients with transfusion-dependent thalassemia
Thalassemia is a hereditary hemolytic anemia with a severity ranging from mild, non-transfusion dependent to severe chronic anemia requiring lifelong transfusion. Transfusional iron overload is a major complic... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 1, 2020 Category: Genetics & Stem Cells Authors: Nithita Nanthatanti, Adisak Tantiworawit, Pokpong Piriyakhuntorn, Thanawat Rattanathammethee, Sasinee Hantrakool, Chatree Chai-Adisaksopha, Ekarat Rattarittamrong, Lalita Norasetthada, Wirote Tuntiwechapikul, Kanda Fanhchaksai, Pimlak Charoenkwan, Sirinar Tags: Research article Source Type: research

Using Ethereum blockchain to store and query pharmacogenomics data via smart contracts
As pharmacogenomics data becomes increasingly integral to clinical treatment decisions, appropriate data storage and sharing protocols need to be adopted. One promising option for secure, high-integrity storag... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 1, 2020 Category: Genetics & Stem Cells Authors: Gamze G ürsoy, Charlotte M. Brannon and Mark Gerstein Tags: Technical Advance Source Type: research

Identification of genes and miRNA associated with idiopathic recurrent pregnancy loss: an exploratory data mining study
Recurrent pregnancy loss (RPL) is a significant adverse pregnancy complication, with an incompletely understood pathology. While many entities were proposed to elucidate the pathogenic basis of RPL, only few w... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 1, 2020 Category: Genetics & Stem Cells Authors: Wael Bahia, Ismael Soltani, Anouar Abidi, Anis Haddad, Salima Ferchichi, Samia Menif and Wassim Y. Almawi Tags: Research article Source Type: research

MetaCNV - a consensus approach to infer accurate copy numbers from low coverage data
The majority of copy number callers requires high read coverage data that is often achieved with elevated material input, which increases the heterogeneity of tissue samples. However, to gain insights into sma... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 1, 2020 Category: Genetics & Stem Cells Authors: Stefanie Friedrich, Remus Barbulescu, Thomas Helleday and Erik L. L. Sonnhammer Tags: Software Source Type: research

The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Intellectual disability (ID) is a heterogeneous neurodevelopmental disorder with a complex genetic underpinning in its etiology. Chromosome microarray (CMA) is recommended as the first-tier diagnostic test for... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - May 19, 2020 Category: Genetics & Stem Cells Authors: Jun Wang, Yan Wang, Liwen Wang, Wang Yang Chen and Min Sheng Tags: Research article Source Type: research

Mitochondrial tRNA methylation in Alzheimer ’s disease and progressive supranuclear palsy
Methylation of mitochondrial tRNAs (mt-tRNA) at the 9th position ( “p9 site”) is known to impact translational efficiency and downstream mitochondrial function; however, direct assessment of mt-RNA methylation ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - May 19, 2020 Category: Genetics & Stem Cells Authors: Talisa K. Silzer, Gita A. Pathak and Nicole R. Phillips Tags: Research article Source Type: research

ER α-related chromothripsis enhances concordant gene transcription on chromosome 17q11.1-q24.1 in luminal breast cancer
Chromothripsis is an event of genomic instability leading to complex chromosomal alterations in cancer. Frequent long-range chromatin interactions between transcription factors (TFs) and targets may promote ex... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - May 14, 2020 Category: Genetics & Stem Cells Authors: Chun-Lin Lin, Xi Tan, Meizhen Chen, Meena Kusi, Chia-Nung Hung, Chih-Wei Chou, Ya-Ting Hsu, Chiou-Miin Wang, Nameer Kirma, Chun-Liang Chen, Ching-Hung Lin, Kate I. Lathrop, Richard Elledge, Virginia G. Kaklamani, Kohzoh Mitsuya and Tim H.-M. Huang Tags: Research article Source Type: research

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families
The causes for thousands of individually rare recessive diseases have been discovered since the adoption of next generation sequencing (NGS). Following the molecular diagnosis in older children in a family, pa... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - May 13, 2020 Category: Genetics & Stem Cells Authors: Mahmoud Y. Issa, Zinayida Chechlacz, Valentina Stanley, Renee D. George, Jennifer McEvoy-Venneri, Denice Belandres, Hasnaa M. Elbendary, Khaled R. Gaber, Ahmed Nabil, Mohamed S. Abdel-Hamid, Maha S. Zaki and Joseph G. Gleeson Tags: Research article Source Type: research

MyoMiner: explore gene co-expression in normal and pathological muscle
High-throughput transcriptomics measures mRNA levels for thousands of genes in a biological sample. Most gene expression studies aim to identify genes that are differentially expressed between different biolog... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - May 11, 2020 Category: Genetics & Stem Cells Authors: Apostolos Malatras, Ioannis Michalopoulos, St éphanie Duguez, Gillian Butler-Browne, Simone Spuler and William J. Duddy Tags: Database Source Type: research

Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1
Xp11.22 duplications have been reported to contribute to nonsyndromic intellectual disability (ID). The HUWE1 gene has been identified in all male Xp11.22 duplication patients and is associated with nonsyndromic ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - May 7, 2020 Category: Genetics & Stem Cells Authors: Qingming Wang, Pengliang Chen, Jianxin Liu, Jiwu Lou, Yanhui Liu and Haiming Yuan Tags: Case report Source Type: research

Modified entropy-based procedure detects gene-gene-interactions in unconventional genetic models
Since it is assumed that genetic interactions play an important role in understanding the mechanisms of complex diseases, different statistical approaches have been suggested in recent years for this task. One... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 23, 2020 Category: Genetics & Stem Cells Authors: J örg Malten and Inke R. König Tags: Technical Advance Source Type: research

Islet-expressed circular RNAs are associated with type 2 diabetes status in human primary islets and in peripheral blood
Circular RNAs are non-coding RNA molecules with gene regulatory potential that have been associated with several human diseases. They are stable and present in the circulation, making them excellent candidates... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 20, 2020 Category: Genetics & Stem Cells Authors: Shahnaz Haque, Ryan M. Ames, Karen Moore, Benjamin P. Lee, Nicola Jeffery and Lorna W. Harries Tags: Research article Source Type: research

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability
Interstitial 4q deletions are rare chromosomal alterations. Most of the previously reported deletions involving the 4q13.3 region are large chromosomal alterations with a common loss of band 4q21 resulting in ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 16, 2020 Category: Genetics & Stem Cells Authors: Živilė Maldžienė, Evelina M. Vaitėnienė, Beata Aleksiūnienė, Algirdas Utkus and Eglė Preikšaitienė Tags: Case report Source Type: research

Prevalence of clinically actionable disease variants in exceptionally long-lived families
Phenotypic expression of pathogenic variants in individuals with no family history of inherited disorders remains unclear. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 10, 2020 Category: Genetics & Stem Cells Authors: Paige Carlson, Mary K. Wojczynski, Todd Druley, Joseph H. Lee, Joseph M. Zmuda and Bharat Thyagarajan Tags: Research article Source Type: research

E. coli diversity: low in colorectal cancer
Escherichia coli are mostly commensals but also contain pathogenic lineages. It is largely unclear whether the commensal E. coli as the potential origins of pathogenic lineages may consist of monophyletic or poly... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 6, 2020 Category: Genetics & Stem Cells Authors: Le Tang, Yu-Jie Zhou, Songling Zhu, Gong-Da Liang, He Zhuang, Man-Fei Zhao, Xiao-Yun Chang, Hai-Ning Li, Zheng Liu, Zhi-Rong Guo, Wei-Qiao Liu, Xiaoyan He, Chun-Xiao Wang, Dan-Dan Zhao, Jia-Jing Li, Xiao-Qin Mu & hellip; Tags: Research article Source Type: research

Absolute measurement of the tissue origins of cell-free DNA in the healthy state and following paracetamol overdose
Despite the emergence of cell-free DNA (cfDNA) as a clinical biomarker in cancer, the tissue origins of cfDNA in healthy individuals have to date been inferred only by indirect and relative measurement methods... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 6, 2020 Category: Genetics & Stem Cells Authors: Danny Laurent, Fiona Semple, Philip J. Starkey Lewis, Elaine Rose, Holly A. Black, Jennifer Coe, Stuart J. Forbes, Mark J. Arends, James W. Dear and Timothy J. Aitman Tags: Research article Source Type: research

Comprehensive chromosomal aberrations in a case of a patient with TCF3-HLF-positive BCP-ALL
The use of high-throughput analytical techniques has enabled the description of acute lymphoblastic leukaemia (ALL) subtypes. The TCF3-HLF translocation is a very rare rearrangement in ALL that is associated with... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 3, 2020 Category: Genetics & Stem Cells Authors: Monika Lejman, Monika W łodarczyk, Joanna Zawitkowska and Jerzy R. Kowalczyk Tags: Case report Source Type: research

Adaptive Fisher method detects dense and sparse signals in association analysis of SNV sets
With the development of next generation sequencing (NGS) technology and genotype imputation methods, statistical methods have been proposed to test a set of genomic variants together to detect if any of them i... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 3, 2020 Category: Genetics & Stem Cells Authors: Xiaoyu Cai, Lo-Bin Chang, Jordan Potter and Chi Song Tags: Research Source Type: research

The International Conference on Intelligent Biology and Medicine 2019 (ICIBM 2019): computational methods and applications in medical genomics
In this editorial, we briefly summarized the International Conference on Intelligent Biology and Medicine 2019 (ICIBM 2019) that was held on June 9 –11, 2019 at Columbus, Ohio, USA. We further introduced the 19... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 3, 2020 Category: Genetics & Stem Cells Authors: Chi Zhang, Ewy Math é, Xia Ning, Zhongming Zhao, Kai Wang, Lang Li and Yan Guo Tags: Introduction Source Type: research

Highly robust model of transcription regulator activity predicts breast cancer overall survival
While several multigene signatures are available for predicting breast cancer prognosis, particularly in early stage disease, effective molecular indicators are needed, especially for triple-negative carcinoma... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 3, 2020 Category: Genetics & Stem Cells Authors: Chuanpeng Dong, Jiannan Liu, Steven X. Chen, Tianhan Dong, Guanglong Jiang, Yue Wang, Huanmei Wu, Jill L. Reiter and Yunlong Liu Tags: Research Source Type: research

Pseudogene-gene functional networks are prognostic of patient survival in breast cancer
Given the vast range of molecular mechanisms giving rise to breast cancer, it is unlikely universal cures exist. However, by providing a more precise prognosis for breast cancer patients through integrative mo... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 3, 2020 Category: Genetics & Stem Cells Authors: Sasha Smerekanych, Travis S. Johnson, Kun Huang and Yan Zhang Tags: Research Source Type: research

Differential co-expression analysis reveals early stage transcriptomic decoupling in alzheimer ’s disease
Alzheimer ’s disease (AD) is one of the leading causes of death in the US and there is no validated drugs to stop, slow or prevent AD. Despite tremendous effort on biomarker discovery, existing findings are mos... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 3, 2020 Category: Genetics & Stem Cells Authors: Yurika Upadhyaya, Linhui Xie, Paul Salama, Sha Cao, Kwangsik Nho, Andrew J. Saykin, Jingwen Yan and for the Alzheimer ’s Disease Neuroimaging Initiative Tags: Research Source Type: research

Identification of miRNA-mRNA associations in hepatocellular carcinoma using hierarchical integrative model
The established role miRNA-mRNA regulation of gene expression has in oncogenesis highlights the importance of integrating miRNA with downstream mRNA targets. These findings call for investigations aimed at ide... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - March 30, 2020 Category: Genetics & Stem Cells Authors: Rency S. Varghese, Yuan Zhou, Megan Barefoot, Yifan Chen, Cristina Di Poto, Abdalla Kara Balla, Everett Oliver, Zaki A. Sherif, Deepak Kumar, Alexander H. Kroemer, Mahlet G. Tadesse and Habtom W. Ressom Tags: Research article Source Type: research

Transcriptome analysis reveals the link between lncRNA-mRNA co-expression network and tumor immune microenvironment and overall survival in head and neck squamous cell carcinoma
As the sixth most common cancer worldwide, head and neck squamous cell carcinoma (HNSCC) develops visceral metastases during the advanced stage of the disease and exhibits a low five-year survival rate. The im... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - March 30, 2020 Category: Genetics & Stem Cells Authors: Zhaoming Zhong, Min Hong, Xiao Chen, Yan Xi, Yuanyuan Xu, Deyu Kong, Jun Deng, Yun Li, Rui Hu, Chuanzheng Sun and Jin Liang Tags: Research article Source Type: research