Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing
Healthcare providers increasingly use information about pathogenic variants in cancer predisposition genes, including sequence variants and large rearrangements (LRs), in medical management decisions. While se... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 17, 2019 Category: Genetics & Stem Cells Authors: Debora Mancini-DiNardo, Thaddeus Judkins, John Kidd, Ryan Bernhisel, Courtney Daniels, Krystal Brown, Kirsten Meek, Jonathan Craft, Jayson Holladay, Brian Morris and Benjamin B. Roa Tags: Research article Source Type: research

Genome-wide discovery and characterization of long noncoding RNAs in patients with multiple myeloma
Long noncoding RNAs (lncRNAs) are involved in a wide range of biological processes in tumorigenesis. However, the role of lncRNA expression in the biology, prognosis, and molecular classification of human mult... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 16, 2019 Category: Genetics & Stem Cells Authors: Minqiu Lu, Ying Hu, Yin Wu, Huixing Zhou, Yuan Jian, Ying Tian and Wenming Chen Tags: Research article Source Type: research

Co-mutations of TP53 and KRAS serve as potential biomarkers for immune checkpoint blockade in squamous-cell non-small cell lung cancer: a case report
Unprecedented durable responses are identified in clinical studies to target the signaling of programmed cell death protein-1 (PD-1) as well as its ligand (PD-L1) in patients with squamous-cell non-small cell ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 16, 2019 Category: Genetics & Stem Cells Authors: Cheng Fang, Chu Zhang, Wei-Qing Zhao, Wen-Wei Hu, Jun Wu and Mei Ji Tags: Case report Source Type: research

The caudate nucleus undergoes dramatic and unique transcriptional changes in human prodromal Huntington ’s disease brain
The mechanisms underlying neurodegeneration in the striatum of Huntingon ’s Disease (HD) brain are currently unknown. While the striatum is massively degenerated in symptomatic individuals, which makes cellular... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 16, 2019 Category: Genetics & Stem Cells Authors: Filisia Agus, Diego Crespo, Richard H. Myers and Adam Labadorf Tags: Research Article Source Type: research

Transcriptome analysis identified a novel 3-LncRNA regulatory network of transthyretin attenuating glucose induced hRECs dysfunction in diabetic retinopathy
Diabetic retinopathy (DR) is the leading cause of blindness in the working age population. Transthyretin (TTR) showed a significantly decreased concentration in DR patients and exerted a visual protective effe... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 15, 2019 Category: Genetics & Stem Cells Authors: Jun Shao, Yunbin Zhang, Guangming Fan, Yu Xin and Yong Yao Tags: Research article Source Type: research

Integrative genomic analyses of APOBEC-mutational signature, expression and germline deletion of APOBEC3 genes, and immunogenicity in multiple cancer types
Although APOBEC-mutational signature is found in tumor tissues of multiple cancers, how a common germline APOBEC3A/B deletion affects the mutational signature remains unclear. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 18, 2019 Category: Genetics & Stem Cells Authors: Zhishan Chen, Wanqing Wen, Jiandong Bao, Krystle L. Kuhs, Qiuyin Cai, Jirong Long, Xiao-ou Shu, Wei Zheng and Xingyi Guo Tags: Research article Source Type: research

Deconvolution of transcriptomes and miRNomes by independent component analysis provides insights into biological processes and clinical outcomes of melanoma patients
The amount of publicly available cancer-related “omics” data is constantly growing and can potentially be used to gain insights into the tumour biology of new cancer patients, their diagnosis and suitable trea... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 18, 2019 Category: Genetics & Stem Cells Authors: Petr V. Nazarov, Anke K. Wienecke-Baldacchino, Andrei Zinovyev, Urszula Czerwi ńska, Arnaud Muller, Dorothée Nashan, Gunnar Dittmar, Francisco Azuaje and Stephanie Kreis Tags: Technical advance Source Type: research

Host genetic variability and pneumococcal disease: a systematic review and meta-analysis
Pneumonia, sepsis, meningitis, and empyema due to Streptococcus pneumoniae is a major cause of morbidity and mortality. We provide a systemic overview of genetic variants associated with susceptibility, phenotype... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 13, 2019 Category: Genetics & Stem Cells Authors: Anne T. Kloek, Matthijs C. Brouwer and Diederik van de Beek Tags: Research article Source Type: research

Enhancer variants associated with Alzheimer ’s disease affect gene expression via chromatin looping
Genome-wide association studies (GWASs) have identified single-nucleotide polymorphisms (SNPs) that may be genetic factors underlying Alzheimer ’s disease (AD). However, how these AD-associated SNPs (AD SNPs) c... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 9, 2019 Category: Genetics & Stem Cells Authors: Masataka Kikuchi, Norikazu Hara, Mai Hasegawa, Akinori Miyashita, Ryozo Kuwano, Takeshi Ikeuchi and Akihiro Nakaya Tags: Research article Source Type: research

Transcriptome analysis of human monocytic cells infected with Burkholderia species and exploration of pentraxin-3 as part of the innate immune response against the organisms
Burkholderia mallei (Bm) is a facultative intracellular bacterial pathogen causing highly-fatal glanders in solipeds and humans. The ability of Bm to thrive intracellularly is thought to be related to exploitatio... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 6, 2019 Category: Genetics & Stem Cells Authors: Sophie A. Aschenbroich, Eric R. Lafontaine, Maria Cecilia Lopez, Henry V. Baker and Robert J. Hogan Tags: Research article Source Type: research

Population structure and transmission modes of indigenous typhoid in Taiwan
Indigenous typhoid fever was continuing to be identified in Taiwan which has not been endemic for the enteric fever for more than 20  years. The source and transmission by which the local patients acquired typh... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - September 3, 2019 Category: Genetics & Stem Cells Authors: Kai-Yu Wang, De-Jen Lee, Shian-Sen Shie and Chih-Jung Chen Tags: Research article Source Type: research

Stoichioproteomics reveal oxygen usage bias, key proteins and pathways in glioma
The five-year survival rate and therapeutic effect of malignant glioma is low. Identification of key/associated proteins and pathways in glioma is necessary for developing effective diagnosis and targeted ther... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 29, 2019 Category: Genetics & Stem Cells Authors: Yongqin Yin, Bo Li, Kejie Mou, Muhammad T. Khan, Aman C. Kaushik, Dongqing Wei and Yu-Juan Zhang Tags: Research article Source Type: research

Transcriptome sequencing of lncRNA, miRNA, mRNA and interaction network constructing in coronary heart disease
Non-coding RNA has been shown to participate in numerous biological and pathological processes and has attracted increasing attention in recent years. Recent studies have demonstrated that long non-coding RNA ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 23, 2019 Category: Genetics & Stem Cells Authors: Jiangquan Liao, Jie Wang, Yongmei Liu, Jun Li and Lian Duan Tags: Research article Source Type: research

Criteria for reporting incidental findings in clinical exome sequencing – a focus group study on professional practices and perspectives in Belgian genetic centres
Incidental and secondary findings (IFs and SFs) are subject to ongoing discussion as potential consequences of clinical exome sequencing (ES). International policy documents vary on the reporting of these find... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 20, 2019 Category: Genetics & Stem Cells Authors: Marlies Saelaert, Heidi Mertes, Tania Moerenhout, Elfride De Baere and Ignaas Devisch Tags: Research article Source Type: research

Genome-wide association study identifies new susceptible loci of IgA nephropathy in Koreans
Immunoglobulin A nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Recent evidence suggests that genetic factors are related to the pathogenesis of IgAN. We conducted a genome-wide as... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 19, 2019 Category: Genetics & Stem Cells Authors: Kyung Hwan Jeong, Jin Sug Kim, Yu Ho Lee, Yang Gyun Kim, Ju-Young Moon, Su Kang Kim, Sun Woo Kang, Tae Hee Kim, Sang Ho Lee and Yeong Hoon Kim Tags: Research article Source Type: research

Characterization of disease-specific cellular abundance profiles of chronic inflammatory skin conditions from deconvolution of biopsy samples
Psoriasis and atopic dermatitis are two inflammatory skin diseases with a high prevalence and a significant burden on the patients. Underlying molecular mechanisms include chronic inflammation and abnormal pro... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 17, 2019 Category: Genetics & Stem Cells Authors: Zandra C. F élix Garza, Michael Lenz, Joerg Liebmann, Gökhan Ertaylan, Matthias Born, Ilja C. W. Arts, Peter A. J. Hilbers and Natal A. W. van Riel Tags: Research article Source Type: research

Genome-wide association studies of severe P. falciparum malaria susceptibility: progress, pitfalls and prospects
P. falciparum malaria has been recognized as one of the prominent evolutionary selective forces of human genome that led to the emergence of multiple host protective alleles. A comprehensive understanding of the ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 14, 2019 Category: Genetics & Stem Cells Authors: Delesa Damena, Awany Denis, Lemu Golassa and Emile R. Chimusa Tags: Review Source Type: research

Correction to: Predicting drug response of tumors from integrated genomic profiles by deep neural networks
Following publication of the original article [1], the authors provided an updated funding statement to the article. The updated statement is as follows: (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 12, 2019 Category: Genetics & Stem Cells Authors: Yu-Chiao Chiu, Hung-I Harry Chen, Tinghe Zhang, Songyao Zhang, Aparna Gorthi, Li-Ju Wang, Yufei Huang and Yidong Chen Tags: Correction Source Type: research

Discovery of stroke-related blood biomarkers from gene expression network models
Identifying molecular biomarkers characteristic of ischemic stroke has the potential to aid in distinguishing stroke cases from stroke mimicking symptoms, as well as advancing the understanding of the physiolo... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 7, 2019 Category: Genetics & Stem Cells Authors: Konstantinos Theofilatos, Aigli Korfiati, Seferina Mavroudi, Matthew C. Cowperthwaite and Max Shpak Tags: Research article Source Type: research

Clustering analysis of microRNA and mRNA expression data from TCGA using maximum edge-weighted matching algorithms
microRNA (miRNA) is a short RNA (~  22 nt) that regulates gene expression at the posttranscriptional level. Aberration of miRNA expressions could affect their targeting mRNAs involved in cancer-related signalin... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 5, 2019 Category: Genetics & Stem Cells Authors: Lizhong Ding, Zheyun Feng and Yongsheng Bai Tags: Research article Source Type: research

Correction to: Sequencing and curation strategies for identifying candidate glioblastoma treatments
Following publication of the original article [1], it was reported that the given name of the fourteenth author was incorrectly published. The incorrect and the correct names are given below. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 2, 2019 Category: Genetics & Stem Cells Authors: Mayu O. Frank, Takahiko Koyama, Kahn Rhrissorrakrai, Nicolas Robine, Filippo Utro, Anne-Katrin Emde, Bo-Juen Chen, Kanika Arora, Minita Shah, Heather Geiger, Vanessa Felice, Esra Dikoglu, Sadia Rahman, Xiaolan Fang, Vladimir Vacic, Ewa A. Bergmann & helli Tags: Correction Source Type: research

Identification of single nucleotide variants using position-specific error estimation in deep sequencing data
Targeted deep sequencing is a highly effective technology to identify known and novel single nucleotide variants (SNVs) with many applications in translational medicine, disease monitoring and cancer profiling... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 2, 2019 Category: Genetics & Stem Cells Authors: Dimitrios Kleftogiannis, Marco Punta, Anuradha Jayaram, Shahneen Sandhu, Stephen Q. Wong, Delila Gasi Tandefelt, Vincenza Conteduca, Daniel Wetterskog, Gerhardt Attard and Stefano Lise Tags: Technical advance Source Type: research

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 2, 2019 Category: Genetics & Stem Cells Authors: Kevin Yauy, Anouck Schneider, Bee Ling Ng, Jean-Baptiste Gaillard, Satish Sati, Christine Coubes, Constance Wells, Magali Tournaire, Thomas Guignard, Pauline Bouret, David Genevi ève, Jacques Puechberty, Franck Pellestor and Vincent Gatinois Tags: Case report Source Type: research

Analysis of genetic networks regulating refractive eye development in collaborative cross progenitor strain mice reveals new genes and pathways underlying human myopia
Population studies suggest that genetic factors play an important role in refractive error development; however, the precise role of genetic background and the composition of the signaling pathways underlying ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 30, 2019 Category: Genetics & Stem Cells Authors: Tatiana V. Tkatchenko, Rupal L. Shah, Takayuki Nagasaki and Andrei V. Tkatchenko Tags: Research article Source Type: research

Humanized yeast genetic interaction mapping predicts synthetic lethal interactions of FBXW7 in breast cancer
Synthetic lethal interactions (SLIs) that occur between gene pairs are exploited for cancer therapeutics. Studies in the model eukaryote yeast have identified ~  550,000 negative genetic interactions that have ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 27, 2019 Category: Genetics & Stem Cells Authors: Morgan W. B. Kirzinger, Frederick S. Vizeacoumar, Bjorn Haave, Cristina Gonzalez-Lopez, Keith Bonham, Anthony Kusalik and Franco J. Vizeacoumar Tags: Research article Source Type: research

Modeling breast cancer progression to bone: how driver mutation order and metabolism matter
Not all the mutations are equally important for the development of metastasis. What about their order? The survival of cancer cells from the primary tumour site to the secondary seeding sites depends on the oc... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 25, 2019 Category: Genetics & Stem Cells Authors: Gianluca Ascolani and Pietro Li ò Tags: Research Source Type: research

Elevated neoantigen levels in tumors with somatic mutations in the HLA-A, HLA-B, HLA-C and B2M genes
The major histocompatibility complex class I (MHC-I) molecule is a protein complex that displays intracellular peptides to T cells, allowing the immune system to recognize and destroy infected or cancerous cel... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 25, 2019 Category: Genetics & Stem Cells Authors: Andrea Castro, Kivilcim Ozturk, Rachel Marty Pyke, Su Xian, Maurizio Zanetti and Hannah Carter Tags: Research Source Type: research

Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits
Genetic loss-of-function variants (LoFs) associated with disease traits are increasingly recognized as critical evidence for the selection of therapeutic targets. We integrated the analysis of genetic and clin... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 25, 2019 Category: Genetics & Stem Cells Authors: Benjamin S. Glicksberg, Letizia Amadori, Nicholas K. Akers, Katyayani Sukhavasi, Oscar Franz én, Li Li, Gillian M. Belbin, Kristin L. Akers, Khader Shameer, Marcus A. Badgeley, Kipp W. Johnson, Ben Readhead, Bruce J. Darrow, Eimear E. Kenny, Christer Bet Tags: Research Source Type: research

Systematic analysis of the intersection of disease mutations with protein modifications
Perturbed posttranslational modification (PTM) landscapes commonly cause pathological phenotypes. The Cancer Genome Atlas (TCGA) project profiles thousands of tumors allowing the identification of spontaneous ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 25, 2019 Category: Genetics & Stem Cells Authors: Claire M. Simpson, Bin Zhang, Peter V. Hornbeck and Florian Gnad Tags: Research Source Type: research

The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay
Chromosomal microarray analysis has been shown to be a valuable and cost effective assay for elucidating copy number variants (CNVs) in children with intellectual disability and developmental delay (ID/DD). (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 23, 2019 Category: Genetics & Stem Cells Authors: Marketa Wayhelova, Jan Smetana, Vladimira Vallova, Eva Hladilkova, Hana Filkova, Marta Hanakova, Marcela Vilemova, Petra Nikolova, Barbora Gromesova, Renata Gaillyova and Petr Kuglik Tags: Research article Source Type: research

Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population
Copy Number variation (CNVs) in genes related to drug absorption, distribution, metabolism and excretion (ADME) are relevant in the interindividual variability of drug response. Studies of the CNVs in ADME gen... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 19, 2019 Category: Genetics & Stem Cells Authors: Brian Ram írez, María José Niño-Orrego, Daniel Cárdenas, Kevin Enrique Ariza, Karol Quintero, Nora Constanza Contreras Bravo, Caroll Tamayo-Agudelo, María Alejandra González, Paul Laissue and Dora Janeth Fonseca Mendoza Tags: Research article Source Type: research

Evaluating single-subject study methods for personal transcriptomic interpretations to advance precision medicine
Gene expression profiling has benefited medicine by providing clinically relevant insights at the molecular candidate and systems levels. However, to adopt a more ‘precision’ approach that integrates individua... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 11, 2019 Category: Genetics & Stem Cells Authors: Samir Rachid Zaim, Colleen Kenost, Joanne Berghout, Francesca Vitali, Helen Hao Zhang and Yves A. Lussier Tags: Research Source Type: research

CONFIGURE: A pipeline for identifying context specific regulatory modules from gene expression data and its application to breast cancer
Gene expression data is widely used for identifying subtypes of diseases such as cancer. Differentially expressed gene analysis and gene set enrichment analysis are widely used for identifying biological mecha... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 11, 2019 Category: Genetics & Stem Cells Authors: Sungjoon Park, Doyeong Hwang, Yoon Sun Yeo, Hyunggee Kim and Jaewoo Kang Tags: Research Source Type: research

Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren ’s disease
Dupuytren ’s disease (DD) is a fibroproliferative disorder characterized by thickening and contracting palmar fascia. The exact pathogenesis of DD remains unknown. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 11, 2019 Category: Genetics & Stem Cells Authors: Junghyun Jung, Go Woon Kim, Byungjo Lee, Jong Wha J. Joo and Wonhee Jang Tags: Research Source Type: research

CoMutPlotter: a web tool for visual summary of mutations in cancer cohorts
CoMut plot is widely used in cancer research publications as a visual summary of mutational landscapes in cancer cohorts. This summary plot can inspect gene mutation rate and sample mutation burden with their ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 11, 2019 Category: Genetics & Stem Cells Authors: Po-Jung Huang, Hou-Hsien Lin, Chi-Ching Lee, Ling-Ya Chiu, Shao-Min Wu, Yuan-Ming Yeh, Petrus Tang, Cheng-Hsun Chiu, Ping-Chiang Lyu and Pei-Chien Tsai Tags: Research Source Type: research

GENT2: an updated gene expression database for normal and tumor tissues
Gene Expression database of Normal and Tumor tissues 2 (GENT2) is an updated version of GENT, which has provided a user-friendly search platform for gene expression patterns across different normal and tumor t... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 11, 2019 Category: Genetics & Stem Cells Authors: Seung-Jin Park, Byoung-Ha Yoon, Seon-Kyu Kim and Seon-Young Kim Tags: Research Source Type: research

Retroposed copies of RET gene: a somatically acquired event in medullary thyroid carcinoma
Different pathogenic germline mutations in the RET oncogene are identified in MEN 2, a hereditary syndrome characterized by medullary thyroid carcinoma (MTC) and other endocrine tumors. Although genetic predispos... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 9, 2019 Category: Genetics & Stem Cells Authors: Larissa V. Bim, F ábio C. P. Navarro, Flávia O. F. Valente, José V. Lima-Junior, Rosana Delcelo, Magnus R. Dias-da-Silva, Rui M. B. Maciel, Pedro A. F. Galante and Janete M. Cerutti Tags: Research article Source Type: research

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic v... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 9, 2019 Category: Genetics & Stem Cells Authors: Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wen Tags: Research article Source Type: research

Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis
Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumor characterized by numerous adenomatous colonic polyps that often lead to colon cancer. Although most patients with FAP harbored ger... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 3, 2019 Category: Genetics & Stem Cells Authors: Borahm Kim, Dongju Won, Mi Jang, Hoguen Kim, Jong Rak Choi, Tae Il Kim and Seung-Tae Lee Tags: Research article Source Type: research

Genomic data analysis workflows for tumors from patient-derived xenografts (PDXs): challenges and guidelines
Patient-derived xenograft (PDX) models are in vivo models of human cancer that have been used for translational cancer research and therapy selection for individual patients. The Jackson Laboratory (JAX) PDX r... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 1, 2019 Category: Genetics & Stem Cells Authors: Xing Yi Woo, Anuj Srivastava, Joel H. Graber, Vinod Yadav, Vishal Kumar Sarsani, Al Simons, Glen Beane, Stephen Grubb, Guruprasad Ananda, Rangjiao Liu, Grace Stafford, Jeffrey H. Chuang, Susan D. Airhart, R. Krishna Murthy Karuturi, Joshy George and Carol Tags: Technical advance Source Type: research

MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells
In this study, we investigated the ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 1, 2019 Category: Genetics & Stem Cells Authors: Akiko Suzuki, Aimin Li, Mona Gajera, Nada Abdallah, Musi Zhang, Zhongming Zhao and Junichi Iwata Tags: Research article Source Type: research

Placental microRNAs in pregnancies with early onset intrauterine growth restriction and preeclampsia: potential impact on gene expression and pathophysiology
A normally developed placenta is integral to a successful pregnancy. Preeclampsia (PE) and intrauterine growth restriction (IUGR) are two common pregnancy related complications that maybe a result of abnormal ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 27, 2019 Category: Genetics & Stem Cells Authors: Zain Awamleh, Gregory B. Gloor and Victor K. M. Han Tags: Research article Source Type: research

Development and validation of GMI signature based random survival forest prognosis model to predict clinical outcome in acute myeloid leukemia
Acute myeloid leukemia (AML) is a disease with marked molecular heterogeneity and a high early death rate. Our aim was to investigate an integrated Gene expression, Mirna and miRNA-mRNA Interactions (GMI) sign... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 26, 2019 Category: Genetics & Stem Cells Authors: Mingguang Shi and Guofu Xu Tags: Research article Source Type: research

Transcriptome profiling reveals significant changes in the gastric muscularis externa with obesity that partially overlap those that occur with idiopathic gastroparesis
Gastric emptying is impaired in patients with gastroparesis whereas it is either unchanged or accelerated in obese individuals. The goal of the current study was to identify changes in gene expression in the s... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 20, 2019 Category: Genetics & Stem Cells Authors: B. Paul Herring, Meng Chen, Plamen Mihaylov, April M. Hoggatt, Anita Gupta, Attila Nakeeb, Jennifer N. Choi and John M. Wo Tags: Research article Source Type: research

Defining housekeeping genes suitable for RNA-seq analysis of the human allograft kidney biopsy tissue
RNA-seq is poised to play a major role in the management of kidney transplant patients. Rigorous definition of housekeeping genes (HKG) is essential for further progress in this field. Using single genes or a ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 17, 2019 Category: Genetics & Stem Cells Authors: Zijie Wang, Zili Lyu, Ling Pan, Gang Zeng and Parmjeet Randhawa Tags: Research article Source Type: research

A systematic analysis of genomics-based modeling approaches for prediction of drug response to cytotoxic chemotherapies
The availability and generation of large amounts of genomic data has led to the development of a new paradigm in cancer treatment emphasizing a precision approach at the molecular and genomic level. Statistica... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 17, 2019 Category: Genetics & Stem Cells Authors: Joshua D. Mannheimer, Dawn L. Duval, Ashok Prasad and Daniel L. Gustafson Tags: Research article Source Type: research

Retrovirus insertion site analysis of LGL leukemia patient genomes
Large granular lymphocyte (LGL) leukemia is an uncommon cancer characterized by sustained clonal proliferation of LGL cells. Antibodies reactive to retroviruses have been documented in the serum of patients wi... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 17, 2019 Category: Genetics & Stem Cells Authors: Weiling Li, Lei Yang, Robert S. Harris, Lin Lin, Thomas L. Olson, Cait E. Hamele, David J. Feith, Thomas P. Loughran Jr and Mary Poss Tags: Research article Source Type: research

Prenatal identification of partial 3q duplication syndrome
The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences res... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 13, 2019 Category: Genetics & Stem Cells Authors: Magdalena Pasi ńska, Rafał Adamczak, Anna Repczyńska, Ewelina Łazarczyk, Barbara Iskra, Agata Klaudia Runge and Olga Haus Tags: Case report Source Type: research

Comprehensive genomic characterization of breast tumors with BRCA1 and BRCA2 mutations
Germline mutations in the BRCA1 and BRCA2 genes predispose carriers to breast and ovarian cancer, and there remains a need to identify the specific genomic mechanisms by which cancer evolves in these patients.... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 10, 2019 Category: Genetics & Stem Cells Authors: Avantika Lal, Daniele Ramazzotti, Ziming Weng, Keli Liu, James M. Ford and Arend Sidow Tags: Research article Source Type: research

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report
The vast majority of cases with Beckwith-Wiedemann syndrome (BWS) are caused by a molecular defect in the imprinted chromosome region 11p15.5. The underlying mechanisms include epimutations, uniparental disomy... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - June 7, 2019 Category: Genetics & Stem Cells Authors: Caroline Lekszas, Indrajit Nanda, Barbara Vona, Julia B öck, Farah Ashrafzadeh, Nahid Donyadideh, Farnoosh Ebrahimzadeh, Najmeh Ahangari, Reza Maroofian, Ehsan Ghayoor Karimiani and Thomas Haaf Tags: Case report Source Type: research