Citation: Human Genomics 2021 15:59
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Evaluation of low-pass genome sequencing in polygenic risk score calculation for Parkinson’s disease
Low-pass sequencing (LPS) has been extensively investigated for applicability to various genetic studies due to its advantages over genotype array data including cost-effectiveness. Predicting the risk of comp...
Citation: Human Genomics 2021 15:58
Citation: Human Genomics 2021 15:57
Citation: Human Genomics 2021 15:56
Abnormal expression profile of plasma-derived exosomal microRNAs in patients with treatment-resistant depression
Whether microRNAs (miRNAs) from plasma exosomes might be dysregulated in patients with depression, especially treatment-resistant depression (TRD), remains unclear, based on study of which novel biomarkers and...
Citation: Human Genomics 2021 15:55
Perception of personalized medicine, pharmacogenomics, and genetic testing among undergraduates in Hong Kong
The global development and advancement of genomic medicine in the recent decade has accelerated the implementation of personalized medicine (PM) and pharmacogenomics (PGx) into clinical practice, while catalyz...
Citation: Human Genomics 2021 15:54
Identification of subgroups along the glycolysis-cholesterol synthesis axis and the development of an associated prognostic risk model
Skin cutaneous melanoma (SKCM) is one of the most highly prevalent and complicated malignancies. Glycolysis and cholesterogenesis pathways both play important roles in cancer metabolic adaptations. The main ai...
Citation: Human Genomics 2021 15:53
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining
Familial transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease with significant phenotypic heterogeneity. Its prevalence in Saudi Arabia has not previously been investigated. An existing exom...
Citation: Human Genomics 2021 15:52
A novel machine learning-based approach for the computational functional assessment of pharmacogenomic variants
The field of pharmacogenomics focuses on the way a person’s genome affects his or her response to a certain dose of a specified medication. The main aim is to utilize this information to guide and personalize ...
Citation: Human Genomics 2021 15:51
Previous studies indicated that lncRNA taurine upregulated gene 1 (TUG1) played essential roles in human cancers. This study aimed to investigate its function in infantile hemangioma (IH).
Citation: Human Genomics 2021 15:50
The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review
The diagnostic process for uncommon disorders with similar manifestations is complicated and requires newer technology, like gene sequencing for a correct diagnosis.
Citation: Human Genomics 2021 15:49
Copy number variants (CNVs) include deletions or multiplications spanning genomic regions. These regions vary in size and may span genes known to play a role in human diseases. As examples, duplications and tr...
Citation: Human Genomics 2021 15:48
Aberrant splicing of individual genes is a well-known mechanism promoting pathology for a wide range of conditions, but disease is less commonly attributed to global disruption of exon usage. To explore the po...
Citation: Human Genomics 2021 15:47
Increasing amounts of genetic data have led to the development of polygenic risk scores (PRSs) for a variety of diseases. These scores, built from the summary statistics of genome-wide association studies (GWA...
Citation: Human Genomics 2021 15:46
ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants
Leukodystrophies are the main subgroup of inherited CNS white matter disorders which cause significant mortality and morbidity in early years of life. Diagnosis is mostly based on clinical context and neuroima...
Citation: Human Genomics 2021 15:45
Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo n...
Citation: Human Genomics 2021 15:44
High-throughput screening of circRNAs reveals novel mechanisms of tuberous sclerosis complex-related renal angiomyolipoma
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease characterized by lesions throughout the body. Our previous study showed the abnormal up-regulation of miRNAs plays an important part in the...
Citation: Human Genomics 2021 15:43
TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia
Skeletal dysplasia is a common, clinically and genetically heterogeneous disorder in the human population. An increasing number of different genes are being identified causing this disorder. We used whole exom...
Citation: Human Genomics 2021 15:42
Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform
To evaluate the performance of noninvasive prenatal testing (NIPT) and NIPT-PLUS for the detection of genome-wide microdeletion and microduplication syndromes (MMSs) at different sequencing depths. The NIPT se...
Citation: Human Genomics 2021 15:41
Trisomy 18 syndrome (Edwards syndrome, ES) is a type of aneuploidy caused by the presence of an extra chromosome 18. Aneuploidy is the leading cause of early pregnancy loss, intellectual disability, and multip...
Citation: Human Genomics 2021 15:40
Identification of hub genes associated with prognosis, diagnosis, immune infiltration and therapeutic drug in liver cancer by integrated analysis
Liver cancer is one of the most common cancers and causes of cancer death worldwide. The objective was to elucidate novel hub genes which were benefit for diagnosis, prognosis, and targeted therapy in liver cance...
Citation: Human Genomics 2021 15:39
HCP5, as the sponge of miR-1291, facilitates AML cell proliferation and restrains apoptosis via increasing PIK3R5 expression
Acute myeloid leukemia (AML) is recognized as a hematological neoplasm with heterogenetic cytology and short-term outcome. HCP5 has been proven to be related with the pathogenesis of AML. However, the underlyi...
Citation: Human Genomics 2021 15:38
Advancing clinical genomics and precision medicine with GVViZ: FAIR bioinformatics platform for variable gene-disease annotation, visualization, and expression analysis
Genetic disposition is considered critical for identifying subjects at high risk for disease development. Investigating disease-causing and high and low expressed genes can support finding the root causes of u...
Citation: Human Genomics 2021 15:37
Regulatory VCAN polymorphism is associated with shoulder pain and disability in breast cancer survivors
Shoulder morbidity following breast cancer treatment is multifactorial. Despite several treatment- and patient-related factors being implicated, unexplained inter-individual variability exists in the developme...
Citation: Human Genomics 2021 15:36
Citation: Human Genomics 2021 15:35
Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences
Mitochondrial genome copy number (MT-CN) varies among humans and across tissues and is highly heritable, but its causes and consequences are not well understood. When measured by bulk DNA sequencing in blood, ...
Citation: Human Genomics 2021 15:34
Recent efforts in the field of nutritional science have allowed the discovery of disease-beating molecules within foods based on the commonality of bioactive food molecules to FDA-approved drugs. The pioneerin...
Citation: Human Genomics 2021 15:33
For decades, various strategies have been proposed to solve the enigma of hemoglobinopathies, especially severe cases. However, most of them seem to be lagging in terms of effectiveness and safety. So far, the...
Citation: Human Genomics 2021 15:32
Citation: Human Genomics 2021 15:31
UDP-glucuronosyltransferases (UGTs) are the main phase II drug-metabolizing enzymes mediating the most extensive glucuronidation-binding reaction in the human body. The UGT1A family is involved in more than ha...
Citation: Human Genomics 2021 15:30
Coronavirus disease 2019 (COVID-19) is a global health problem that causes millions of deaths worldwide. The clinical manifestation of COVID-19 widely varies from asymptomatic infection to severe pneumonia and...
Citation: Human Genomics 2021 15:29
Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease
Rare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms. Rare diseases have in general a hi...
Citation: Human Genomics 2021 15:28
COVID-19 has engulfed the world and it will accompany us all for some time to come. Here, we review the current state at the milestone of 1 year into the pandemic, as declared by the WHO (World Health Organiza...
Citation: Human Genomics 2021 15:27
An application of slow feature analysis to the genetic sequences of coronaviruses and influenza viruses
Mathematical approaches have been for decades used to probe the structure of nucleotide sequences. This has led to the development of Bioinformatics. In this exploratory work, a novel mathematical method is ap...
Citation: Human Genomics 2021 15:26
Trisomy 21 (T21) is a genetic alteration characterised by the presence of an extra full or partial human chromosome 21 (Hsa21) leading to Down syndrome (DS), the most common form of intellectual disability (ID...
Citation: Human Genomics 2021 15:25
The occurrence of osteoarthritis is related to genetic and environmental factors. Among them, the change of chondrocyte gene expression pattern regulated by epigenetic modification is an important participant....
Citation: Human Genomics 2021 15:24
An ensemble of the iCluster method to analyze longitudinal lncRNA expression data for psoriasis patients
Psoriasis is an immune-mediated, inflammatory disorder of the skin with chronic inflammation and hyper-proliferation of the epidermis. Since psoriasis has genetic components and the diseased tissue of psoriasi...
Citation: Human Genomics 2021 15:23
Identification of differentially expressed genes and signaling pathways in human conjunctiva and reproductive tract infected with Chlamydia trachomatis
Currently, Chlamydia trachomatis–specific host defense mechanisms in humans remain poorly defined. To study the characteristics of host cells infected early with Chlamydia trachomatis, we used bioinformatics meth...
Citation: Human Genomics 2021 15:22
Targeted exome sequencing identifies mutational landscape in a cohort of 1500 Chinese patients with non-small cell lung carcinoma (NSCLC)
Non-small cell lung carcinoma (NSCLC) is one of the most common human cancers, comprising approximately 80–85% of all lung carcinomas. An estimated incidence of NSCLC is approximately 2 million new cases per y...
Citation: Human Genomics 2021 15:21
An increasing number of countries are investing efforts to exploit the human genome, in order to improve genetic diagnostics and to pave the way for the integration of precision medicine into health systems. T...
Citation: Human Genomics 2021 15:20
Genetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability
Genetic variants, underlining phenotypic diversity, are known to distribute unevenly in the human genome. A comprehensive understanding of the distributions of different genetic variants is important for insig...
Citation: Human Genomics 2021 15:19
Exploration and validation of related hub gene expression during SARS-CoV-2 infection of human bronchial organoids
In the novel coronavirus pandemic, the high infection rate and high mortality have seriously affected people’s health and social order. To better explore the infection mechanism and treatment, the three-dimens...
Citation: Human Genomics 2021 15:18
Autism spectrum disorder (ASD) is a neurodevelopmental disease, characterized by impaired social communication, executive dysfunction, and abnormal perceptual processing. It is more frequent among males. All o...
Citation: Human Genomics 2021 15:17
Genomic research on neurodevelopmental disorders (NDDs), particularly involving minors, combines and amplifies existing research ethics issues for biomedical research. We performed a review of the literature o...
Citation: Human Genomics 2021 15:16
C-X-C motif chemokine 16, modulated by microRNA-545, aggravates myocardial damage and affects the inflammatory responses in myocardial infarction
Myocardial infarction (MI), a common type of coronary heart disease, is the major cause of morbidity and mortality around the world. Chemokine-mediated inflammatory cell infiltration and local inflammatory dam...
Citation: Human Genomics 2021 15:15
Cell-free DNA is known to be a mixture of DNA fragments originating from various tissue types and organs of the human body and can be utilized for several clinical applications and potentially more to be creat...
Citation: Human Genomics 2021 15:14
Citation: Human Genomics 2021 15:13
This letter is the Human Genome Organisation’s summary reaction to the 2020 COVID-19 pandemic. It identifies key areas for genomics research, and areas in which genomic scientists can contribute to a global re...
Citation: Human Genomics 2021 15:12
Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
Complex developmental encephalopathy syndromes might be the consequence of unknown genetic alterations that are likely to contribute to the full neurological phenotype as a consequence of pathogenic gene combi...
Citation: Human Genomics 2021 15:11
The severity of coronavirus disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is highly heterogeneous. Studies have reported that males and some ethnic groups a...
Citation: Human Genomics 2021 15:10
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