Articles

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short statu...

Authors: Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An and Feihong Luo

Factors affecting cell-free DNA fetal fraction: statistical analysis of 13,661 maternal plasmas for non-invasive prenatal screening

The identification of cell-free fetal DNA (cffDNA) facilitated non-invasive prenatal screening (NIPS) through analysis of cffDNA in maternal plasma. However, challenges regarding its clinical implementation be...

Authors: Yaping Hou, Jiexia Yang, Yiming Qi, Fangfang Guo, Haishan Peng, Dongmei Wang, Yixia Wang, Xiaohui Luo, Yi Li and Aihua Yin

Genetics and functions of the retinoic acid pathway, with special emphasis on the eye

Retinoic acid (RA) is a potent morphogen required for embryonic development. RA is formed in a multistep process from vitamin A (retinol); RA acts in a paracrine fashion to shape the developing eye and is esse...

Authors: Brian Thompson, Nicholas Katsanis, Nicholas Apostolopoulos, David C. Thompson, Daniel W. Nebert and Vasilis Vasiliou

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features

Since the discovery of cell-free DNA (cfDNA) in maternal plasma, it has opened up new approaches for non-invasive prenatal testing. With the development of whole-genome sequencing, small subchromosomal deletio...

Authors: Yibo Chen, Qi Yu, Xiongying Mao, Wei Lei, Miaonan He and Wenbo Lu

Transcriptomic analysis of monocytes from HIV-positive men on antiretroviral therapy reveals effects of tobacco smoking on interferon and stress response systems associated with depressive symptoms

Tobacco smoking induces immunomodulatory and pro-inflammatory effects associated with transcriptome changes in monocytes and other immune cell types. While smoking is prevalent in HIV-infected (HIV+) individua...

Authors: David R. Lorenz, Vikas Misra and Dana Gabuzda

Association between polymorphism in CDKN2B-AS1 gene and its interaction with smoking on the risk of lung cancer in a Chinese population

Long non-coding RNAs became the hot spots in the carcinogenesis of various tumors. This case-control study evaluated the association between the rs2151280 in lncRNA CDKN2B-AS1 and lung cancer risk.

Authors: Xiaoting Lv, Zhigang Cui, Hang Li, Juan Li, Zitai Yang, Yanhong Bi, Min Gao, Ziwei Zhang, Shengli Wang, Baosen Zhou and Zhihua Yin

Common polymorphic inversions at 17q21.31 and 8p23.1 associate with cancer prognosis

Chromosomal inversions are structural genetic variants where a chromosome segment changes its orientation. While sporadic de novo inversions are known genetic risk factors for cancer susceptibility, it is unkn...

Authors: Carlos Ruiz-Arenas, Alejandro Cáceres, Victor Moreno and Juan R. González

Genetic variants of VEGFR-1 gene promoter in acute myocardial infarction

Coronary artery disease (CAD) including acute myocardial infarction (AMI) is a common complex disease caused by atherosclerosis. Vascular epithelial growth factor receptor-1 (VEGFR-1) stimulates angiogenesis a...

Authors: Haihua Wang, Shufang Zhang, Na Wang, Jie Zhang, Mingkai Chen, Xiaohui He, Yinghua Cui, Shuchao Pang and Bo Yan

Identification of key candidate genes and molecular pathways in white fat browning: an anti-obesity drug discovery based on computational biology

Obesity—with its increased risk of obesity-associated metabolic diseases—has become one of the greatest public health epidemics of the twenty-first century in affluent countries. To date, there are no ideal dr...

Authors: Yuyan Pan, Jiaqi Liu and Fazhi Qi

Copy number of 8q24.3 drives HSF1 expression and patient outcome in cancer: an individual patient data meta-analysis

The heat-shock transcription factor 1 (HSF1) has been linked to cell proliferation and survival in cancer and has been proposed as a biomarker for poor prognosis. Here, we assessed the role of HSF1 expression in ...

Authors: Nele Brusselaers, Karl Ekwall and Mickael Durand-Dubief

Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance

Dysfunction in inwardly rectifying potassium channel Kir4.1 has been implicated in SeSAME syndrome, an autosomal-recessive (AR), rare, multi-systemic disorder. However, not all neurological, intellectual disab...

Authors: Ravi K. Nadella, Anirudh Chellappa, Anand G. Subramaniam, Ravi Prabhakar More, Srividya Shetty, Suriya Prakash, Nikhil Ratna, V. P. Vandana, Meera Purushottam, Jitender Saini, Biju Viswanath, P. S. Bindu, Madhu Nagappa, Bhupesh Mehta, Sanjeev Jain and Ramakrishnan Kannan

Human mitochondrial genome compression using machine learning techniques

In recent years, with the development of high-throughput genome sequencing technologies, a large amount of genome data has been generated, which has caused widespread concern about data storage and transmissio...

Authors: Rongjie Wang, Tianyi Zang and Yadong Wang

Using Apache Spark on genome assembly for scalable overlap-graph reduction

De novo genome assembly is a technique that builds the genome of a specimen using overlaps of genomic fragments without additional work with reference sequence. Sequence fragments (called reads) are assembled ...

Authors: Alexander J. Paul, Dylan Lawrence, Myoungkyu Song, Seung-Hwan Lim, Chongle Pan and Tae-Hyuk Ahn

Prediction of microbial communities for urban metagenomics using neural network approach

Microbes are greatly associated with human health and disease, especially in densely populated cities. It is essential to understand the microbial ecosystem in an urban environment for cities to monitor the tr...

Authors: Guangyu Zhou, Jyun-Yu Jiang, Chelsea J.-T. Ju and Wei Wang

Robust hypergraph regularized non-negative matrix factorization for sample clustering and feature selection in multi-view gene expression data

As one of the most popular data representation methods, non-negative matrix decomposition (NMF) has been widely concerned in the tasks of clustering and feature selection. However, most of the previously propo...

Authors: Na Yu, Ying-Lian Gao, Jin-Xing Liu, Juan Wang and Junliang Shang

An embedded method for gene identification problems involving unwanted data heterogeneity

Modern applications such as bioinformatics collecting data in various ways can easily result in heterogeneous data. Traditional variable selection methods assume samples are independent and identically distrib...

Authors: Meng Lu

HMNPPID—human malignant neoplasm protein–protein interaction database

Protein–protein interaction (PPI) information extraction from biomedical literature helps unveil the molecular mechanisms of biological processes. Especially, the PPIs associated with human malignant neoplasms...

Authors: Qingqing Li, Zhihao Yang, Zhehuan Zhao, Ling Luo, Zhiheng Li, Lei Wang, Yin Zhang, Hongfei Lin, Jian Wang and Yijia Zhang

A semi-supervised machine learning framework for microRNA classification

MicroRNAs (miRNAs) are a family of short, non-coding RNAs that have been linked to critical cellular activities, most notably regulation of gene expression. The identification of miRNA is a cross-disciplinary ...

Authors: Mohsen Sheikh Hassani and James R. Green

Size matters: how sample size affects the reproducibility and specificity of gene set analysis

Gene set analysis is a well-established approach for interpretation of data from high-throughput gene expression studies. Achieving reproducible results is an essential requirement in such studies. One factor ...

Authors: Farhad Maleki, Katie Ovens, Ian McQuillan and Anthony J. Kusalik

Genomics of rare genetic diseases—experiences from India

Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with specific marriage patterns, includi...

Authors: Sridhar Sivasubbu and Vinod Scaria

SLC39A8 gene encoding a metal ion transporter: discovery and bench to bedside

SLC39A8 is an evolutionarily highly conserved gene that encodes the ZIP8 metal cation transporter in all vertebrates. SLC39A8 is ubiquitously expressed, including pluripotent embryonic stem cells; SLC39A8 express...

Authors: Daniel W. Nebert and Zijuan Liu

lncRNA TUG1 modulates proliferation, apoptosis, invasion, and angiogenesis via targeting miR-29b in trophoblast cells

Pre-eclampsia (PE) is regarded as the leading cause of maternal and neonatal morbidity and mortality. Nevertheless, the potential mechanism for the regulation of trophoblast behaviors and the pathogenesis of P...

Authors: Qian Li, Jing Zhang, Dong-Mei Su, Li-Na Guan, Wei-Hong Mu, Mei Yu, Xu Ma and Rong-Juan Yang

Novel analytical methods to interpret large sequencing data from small sample sizes

Targeted therapies have greatly improved cancer patient prognosis. For instance, chronic myeloid leukemia is now well treated with imatinib, a tyrosine kinase inhibitor. Around 80% of the patients reach comple...

Authors: Florence Lichou, Sébastien Orazio, Stéphanie Dulucq, Gabriel Etienne, Michel Longy, Christophe Hubert, Alexis Groppi, Alain Monnereau, François-Xavier Mahon and Béatrice Turcq

Three miRNAs cooperate with host genes involved in human cardiovascular disease

Understanding the roles of miRNAs in cardiovascular disease remains a challenge. Genomic linkage indicates a functional relationship between intronic miRNAs and their host genes. However, few studies have show...

Authors: Yan Zhu, Jingjing Xie and Hong Sun

Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good

The field of pharmacogenomics (PGx) is gradually shifting from the reactive testing of single genes toward the proactive testing of multiple genes to improve treatment outcomes, reduce adverse events, and decr...

Authors: Kristi Krebs and Lili Milani

Diversity of ATM gene variants: a population-based genome data analysis for precision medicine

Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder that causes deficiency or dysfunction of the ataxia-telangiectasia mutated (ATM) protein. Not only AT patients, but also certain ATM heterozygous ...

Authors: Hisanori Fukunaga, Yasuyuki Taki and Kevin M. Prise

Transcriptome-wide association study of multiple myeloma identifies candidate susceptibility genes

While genome-wide association studies (GWAS) of multiple myeloma (MM) have identified variants at 23 regions influencing risk, the genes underlying these associations are largely unknown. To identify candidate...

Authors: Molly Went, Ben Kinnersley, Amit Sud, David C. Johnson, Niels Weinhold, Asta Försti, Mark van Duin, Giulia Orlando, Jonathan S. Mitchell, Rowan Kuiper, Brian A. Walker, Walter M. Gregory, Per Hoffmann, Graham H. Jackson, Markus M. Nöthen, Miguel Inacio da Silva Filho…

Identification and potential mechanisms of a 4-lncRNA signature that predicts prognosis in patients with laryngeal cancer

This study aimed to describe the use of a novel 4-lncRNA signature to predict prognosis in patients with laryngeal cancer and to explore its possible mechanisms.

Authors: Guihai Zhang, Erxi Fan, Qiuyue Zhong, Guangyong Feng, Yu Shuai, Mingna Wu, Qiying Chen and Xiaoxia Gou

Meeting report: the Human Genome Meeting (HGM) 2019 in Seoul, Korea

Authors: Angela Solano, Giuseppe Novelli, Shruti Baghat, Piero Carnici, Gert-Jan van Ommen and Juergen K. V. Reichardt

Next-generation sequencing in liquid biopsy: cancer screening and early detection

In recent years, the rapid development of next-generation sequencing (NGS) technologies has led to a significant reduction in sequencing cost with improved accuracy. In the area of liquid biopsy, NGS has been ...

Authors: Ming Chen and Hongyu Zhao

Identification of a novel long non-coding RNA within RUNX1 intron 5

RUNX1 gene, a master regulator of the hematopoietic process, participates in pathological conditions as a partner for several genes in chromosomal translocations. One of the most frequent chromosomal translocatio...

Authors: Nicolás Schnake, Marcela Hinojosa and Soraya Gutiérrez

Helicobacter pylori infection, serum pepsinogens as markers of atrophic gastritis, and leukocyte telomere length: a population-based study

Persistent infections that induce prolonged inflammation might negatively affect the leukocyte telomere length (LTL); however, the role in LTL of Helicobacter pylori (H. pylori) infection, which persistently colo...

Authors: Khitam Muhsen, Ronit Sinnreich, Dafna Merom, Hisham Nassar, Dani Cohen and Jeremy D. Kark

Essential genetic findings in neurodevelopmental disorders

Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a remarkably complex architecture ...

Authors: Ana R. Cardoso, Mónica Lopes-Marques, Raquel M. Silva, Catarina Serrano, António Amorim, Maria J. Prata and Luísa Azevedo

A novel knowledge-derived data potentizing method revealed unique liver cancer-associated genetic variants

Next-generation sequencing (NGS) has been advancing the progress of detection of disease-associated genetic variants and genome-wide profiling of expressed sequences over the past decade. NGS enables the analy...

Authors: Naznin Sultana, Mijanur Rahman, Sanat Myti, Jikrul Islam, Md. G. Mustafa and Kakon Nag

Correction to: Evidence that DNA repair genes, a family of tumor suppressor genes, are associated with evolution rate and size of genomes

In the original publication of this article [1], the Figure 1 and Figure 2 were wrong. The Figure 1 “Heat map showing the quantity of DNA repair genes, from red to blue in ascending order, per species’ genome (nu...

Authors: Konstantinos Voskarides, Harsh Dweep and Charalambos Chrysostomou

Genome-wide enriched pathway analysis of acute post-radiotherapy pain in breast cancer patients: a prospective cohort study

Adjuvant radiotherapy (RT) can increase the risk of developing pain; however, the molecular mechanisms of RT-related pain remain unclear. The current study aimed to identify susceptibility loci and enriched pa...

Authors: Eunkyung Lee, Cristiane Takita, Jean L. Wright, Susan H. Slifer, Eden R. Martin, James J. Urbanic, Carl D. Langefeld, Glenn J. Lesser, Edward G. Shaw and Jennifer J. Hu

Interplay Between the Host, the Human Microbiome, and Drug Metabolism

The human microbiome is composed of four major areas including intestinal, skin, vaginal, and oral microbiomes, with each area containing unique species and unique functionalities. The human microbiome may be ...

Authors: Robert G. Nichols, Jeffrey M. Peters and Andrew D. Patterson

Evidence that DNA repair genes, a family of tumor suppressor genes, are associated with evolution rate and size of genomes

Adaptive radiation and evolutionary stasis are characterized by very different evolution rates. The main aim of this study was to investigate if any genes have a special role to a high or low evolution rate. T...

Authors: Konstantinos Voskarides, Harsh Dweep and Charalambos Chrysostomou

IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients

Osteogenesis imperfecta (OI) covers a spectrum of bone fragility disorders. OI is classified into five types; however, the genetic causes of OI might hide in pathogenic variants of 20 different genes. Often cl...

Authors: Lidiia Zhytnik, Katre Maasalu, Binh Ho Duy, Andrey Pashenko, Sergey Khmyzov, Ene Reimann, Ele Prans, Sulev Kõks and Aare Märtson

Statement on bioinformatics and capturing the benefits of genome sequencing for society

The HUGO Committee on Ethics, Law and Society (CELS) undertook a Working Group exploration of the key ethical issues arising from genome sequencing in 2013. The Imagined Futures paper the group subsequently publi...

Authors: Benjamin Capps, Ruth Chadwick, Yann Joly, Tamra Lysaght, Catherine Mills, John J. Mulvihill and Hub Zwart

What influences public views on forensic DNA testing in the criminal field? A scoping review of quantitative evidence

Forensic DNA testing is a powerful tool used to identify, convict, and exonerate individuals charged of criminal offenses, but there are different views on its benefits and risks. Knowledge about public views ...

Authors: Helena Machado and Susana Silva

Genetics of heart rate in heart failure patients (GenHRate)

Elevated resting heart rate (HR) is a risk factor and therapeutic target in patients with heart failure (HF) and reduced ejection fraction (HFrEF). Previous studies indicate a genetic contribution to HR in pop...

Authors: Kaleigh L. Evans, Heidi S. Wirtz, Jia Li, Ruicong She, Juan Maya, Hongsheng Gui, Andrew Hamer, Christophe Depre and David E. Lanfear

Genome-wide association study identifies novel loci for type 2 diabetes-attributed end-stage kidney disease in African Americans

End-stage kidney disease (ESKD) is a significant public health concern disproportionately affecting African Americans (AAs). Type 2 diabetes (T2D) is the leading cause of ESKD in the USA, and efforts to uncove...

Authors: Meijian Guan, Jacob M. Keaton, Latchezar Dimitrov, Pamela J. Hicks, Jianzhao Xu, Nicholette D. Palmer, Lijun Ma, Swapan K. Das, Yii-Der I. Chen, Josef Coresh, Myriam Fornage, Nora Franceschini, Holly Kramer, Carl D. Langefeld, Josyf C. Mychaleckyj, Rulan S. Parekh…

Studies of liver tissue identify functional gene regulatory elements associated to gene expression, type 2 diabetes, and other metabolic diseases

Genome-wide association studies (GWAS) of diseases and traits have found associations to gene regions but not the functional SNP or the gene mediating the effect. Difference in gene regulatory signals can be d...

Authors: Marco Cavalli, Nicholas Baltzer, Gang Pan, José Ramón Bárcenas Walls, Karolina Smolinska Garbulowska, Chanchal Kumar, Stanko Skrtic, Jan Komorowski and Claes Wadelius

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

Amyotrophic lateral sclerosis [1] is a genetically heterogeneous neurodegenerative disorder, characterized by late-onset degeneration of motor neurons leading to progressive limb and bulbar weakness, as well as o...

Authors: Rossella Spataro, Maria Kousi, Sali M. K. Farhan, Jason R. Willer, Jay P. Ross, Patrick A. Dion, Guy A. Rouleau, Mark J. Daly, Benjamin M. Neale, Vincenzo La Bella and Nicholas Katsanis

The significance of trisomy 7 mosaicism in noninvasive prenatal screening

This study was an evaluation of the role of noninvasive prenatal testing (NIPT) in the detection of trisomy 7 in prenatal diagnosis.

Authors: Yiming Qi, Jiexia Yang, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, Qianyi Du and Aihua Yin

Shared genetic underpinnings of childhood obesity and adult cardiometabolic diseases

Obesity during childhood can lead to increased risk of adverse cardiometabolic diseases such as type 2 diabetes and coronary artery disease during adult life. Evidence for strong genetic correlations between c...

Authors: Fasil Tekola-Ayele, Anthony Lee, Tsegaselassie Workalemahu and Katy Sánchez-Pozos

Correction to: The evolutionary genetics of lactase persistence in seven ethnic groups across the Iranian plateau

Abstract

Authors: Hadi Charati, Min-Sheng Peng, Wei Chen, Xing-Yan Yang, Roghayeh Jabbari Ori, Mohsen Aghajanpour-Mir, Ali Esmailizadeh and Ya-Ping Zhang

Transcriptome-wide analysis of differentially expressed chemokine receptors, SNPs, and SSRs in the age-related macular degeneration

Age-related macular degeneration (AMD) is the most common, progressive, and polygenic cause of irreversible visual impairment in the world. The molecular pathogenesis of the primary events of AMD is poorly und...

Authors: Madhu Sudhana Saddala, Anton Lennikov, Anthony Mukwaya, Lijuan Fan, Zhengmao Hu and Hu Huang

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies

Noninvasive prenatal testing (NIPT) for fetal aneuploidies by scanning cell-free fetal DNA in maternal plasma is rapidly becoming a first-tier aneuploidy screening test in clinical practices. With the developm...

Authors: Hua Hu, Li Wang, Jiayan Wu, Peng Zhou, Jingli Fu, Jiuchen Sun, Weiyi Cai, Hailiang Liu and Ying Yang