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Attitude, knowledge and ethical perception toward precision medicine among junior and senior medical students: Findings from one Malaysian medical school

Koh, Kwee Choy, Shanmugan Goonasakaren, Ng, Lam Kean, Chua, Yi Lin, Lee, Jia Ying, Alaric Ding Tian Ang

International e-Journal of Science, Medicine & Education, 2017;11(3):10-19.
MyJurnal

Background: Medical schools are escalating changes
to meet the need for doctors competent to work in the
era of precision medicine. Information on the current
level of awareness of precision medicine among medical
students can help effect the necessary changes in the
medical curriculum. A cross-sectional comparative
study was done to assess the knowledge, attitude and
perception toward the practice of precision medicine
among junior and senior medical students in a medical
school in Malaysia.

Materials and Method: A survey instrument measuring
attitude toward precision medicine, perceived
knowledge of genomic testing concepts, and perception
toward ethical consideration related to precision
medicine, was distributed to junior and senior medical
students. Comparisons were made between senior and
junior medical students.

Results: Only about one-third of the 356 respondents
had heard of precision medicine although 92.7%
expressed interest to learn more about precision
medicine. Overall, junior and senior medical students
had positive attitude toward the adoption of genomeguided
prescribing and precision medicine but were
uncomfortable with their knowledge of genomic testing
concepts. Both junior and senior students were largely
well grounded in their understanding of ethical issues
related to precision medicine.

Conclusions: Knowledge of precision medicine was low
among junior and senior medical students. Although
the students supported the use of precision medicine,
they did not feel adequately prepared to apply genomics
to clinical practice. Their perceptions on ethical issues
related to precision medicine were sound. Seniority did
not appear to influence the perceptions of the students.

Matched MeSH terms: Genomics
Elevational size variation and two new species of torrent frogs from Peninsular Malaysia (Anura: Ranidae: Amolops Cope)

Onn CK, Abraham RK, Grismer JL, Grismer LL

Zootaxa, 2018 Jun 15;4434(2):250-264.
PMID: 30313185 DOI: 10.11646/zootaxa.4434.2.2

Previously, only one species of torrent frog (Amolops larutensis) was thought to occur throughout Peninsular Malaysia. However, genomic work has demonstrated that populations from eastern Peninsular Malaysia form two separate lineages that are genetically distinct from A. larutensis that is now restricted to the western half of Peninsular Malaysia. This study demonstrates that all three lineages can be morphologically distinguished from each other, thereby providing additional support for the recognition of the eastern lineages as two distinct species. These lineages are described herein as Amolops gerutu sp. nov. from the eastern states of Kelantan, Terengganu, and Pahang, and A. australis sp. nov. from the southern-most state of Johor. In general, these two new species form a clade that is sister to A. larutensis and can be readily distinguished from it by having: (1) considerably denser and more pronounced dorsal tubercles, and (2) the posterodorsal surface of thighs having dense, dark stippling as opposed to broad vermiculations. Although differences in other morphometric characters were detected, their utility as diagnostic characters should be applied with caution due to the large intraspecific variation that overlaps among different species in many of the characters we measured. As such, we advocate for the use of tuberculation and pattern of the posterodorsal portion of the thighs as primary diagnostic characters. These characters can readily distinguish A. larutensis from the two new species. To differentiate A. australis sp. nov. from A. gerutu sp. nov. and A. larutensis, body size can be a good diagnostic character as A. australis sp. nov. is significantly smaller in both males (mean = 31.04 ± 1.59 mm) and females (mean = 46.48 ± 3.2 mm). Additionally, we show a strong positive correlation between body size and elevation, with populations from montane forests (>900 m asl) being considerably larger than populations at lower elevations.

Matched MeSH terms: Genomics
Fulltext Revisiting the Taxonomic Status of the Biomedically and Industrially Important Genus Amycolatopsis, Using a Phylogenomic Approach

Sangal V, Goodfellow M, Blom J, Tan GYA, Klenk HP, Sutcliffe IC

Front Microbiol, 2018;9:2281.
PMID: 30319584 DOI: 10.3389/fmicb.2018.02281

Strains belonging to the genus Amycolatopsis are well known for the production of a number of important antimicrobials and other bioactive molecules. In this study, we have sequenced the genomes of five Amycolatopsis strains including Amycolatopsis circi DSM 45561T, Amycolatopsis palatopharyngis DSM 44832T and Amycolatopsis thermalba NRRL B-24845T. The genome sequences were analyzed with 52 other publically available Amycolatopsis genomes, representing 34 species, and 12 representatives from related genera including Saccharomonospora, Saccharopolyspora, Saccharothrix, Pseudonocardia and Thermobispora. Based on the core genome phylogeny, Amycolatopsis strains were subdivided into four major clades and several singletons. The genus Amycolatopsis is homogeneous with only three strains noted to group with other genera. Amycolatopsis halophila YIM93223T is quite distinct from other Amycolatopsis strains, both phylogenetically and taxonomically, and belongs to a distinct genus. In addition, Amycolatopsis palatopharyngis DSM 44832T and Amycolatopsis marina CGMCC4 3568T grouped in a clade with Saccharomonospora strains and showed similar taxogenomic differences to this genus as well as other Amycolatopsis strains. The study found a number of strains, particularly those identified as Amycolatopsis orientalis, whose incorrect identification could be resolved by taxogenomic analyses. Similarly, some unclassified strains could be assigned with species designations. The genome sequences of some strains that were independently sequenced by different laboratories were almost identical (99-100% average nucleotide and amino acid identities) consistent with them being the same strain, and confirming the reproducibility and robustness of genomic data. These analyses further demonstrate that whole genome sequencing can reliably resolve intra- and, inter-generic structures and should be incorporated into prokaryotic systematics.

Matched MeSH terms: Genomics
Fulltext Performance of 2 Polymerization Protocols Targeting Cloned Toxoplasma Parasites

Hanafy NA, Badr MS, Nasr GM

Open Access Maced J Med Sci, 2018 Sep 25;6(9):1577-1580.
PMID: 30337968 DOI: 10.3889/oamjms.2018.400

BACKGROUND: Toxoplasma gondii is a common parasitic infection of humans. Infection is usually mild. Serious complications can occur in pregnant and immunocompromised patients.
AIM: The present study aims to investigate the performance of 2 different PCR protocols; real-time quantitative molecular assays (qPCR) and conventional molecular assays (cPCR), using 2 different sets of primers and by using cloned purified Toxoplasma genomic substances to be evaluated as reference samples.
METHODS: The target DNA was provided in 8 different quantities.
RESULTS: Amplification failure was reported only with the cPCR in samples of low concentrations using both primer sets. Quantitative PCR detected the 8 different dilutions of the purified Toxoplasma gondii using the 2 sets of primers while cPCR was sensitive to detect only 6 different dilutions.
CONCLUSION: Generally real-time quantitative molecular assays, is easy to use method compared to conventional PCR assay and produces more reliable results within only one hour time but still the possible application of qPCRs in routine diagnosis necessitates analysis of a large number of clinical samples in further studies to make the proper choice.

Matched MeSH terms: Genomics
Eating According to One's Genes? Exploring the French Public's Understanding of and Reactions to Personalized Nutrition

Fournier T, Poulain JP

Qual Health Res, 2018 Dec;28(14):2195-2207.
PMID: 30132729 DOI: 10.1177/1049732318793417

In this article, we analyze qualitatively the understanding of and reactions to personalized nutrition (PN) among the French public. Focus groups were conducted to identify the opinions and discourses about two applications of knowledge from nutritional (epi)genomics: a biotechnology (nutrigenetic testing) and a public awareness campaign (the "first thousand days of life" initiative). Our objective was to understand to what extent PN could lead to changes in eating practices as well as in the representations of food-health relationships within France, a country characterized by a strong commitment to commensality and a certain "nutritional relativism." Although discourses on nutritional genomics testify to a resistance to food medicalization, nutritional epigenomics appears as more performative because it introduces the question of transgenerational transmission, thus parental responsibility.

Matched MeSH terms: Genomics; Nutrigenomics; Epigenomics
Fulltext Platelet Transcriptome-based approaches in the fight against dengue and other diseases

Suppiah, J., Sakinah, S., Chan, S.Y., Wong, Y.P., Subbiah, S.K., Chee, H.Y., et al.

Pertanika Journal of Science & Technology, 2018;26(3):933-946.
MyJurnal

Human platelets are anucleate cells that lack in deoxyribonucleic acid (DNA), thus hampering genomic study on them. However, the presence of their own messenger ribonucleic acid (mRNA) transcript allows functional study via the transcriptome approach. Transcriptome not only allows profiling of platelet but also aids in studying gene regulation in virus infections and other diseases that have an impact on platelets. Some viruses are known to affect the platelet either by causing a reduction or destruction. Dengue virus is one of the most postulated virus having such effect and frequently linked to platelet reduction. The transcriptome approach has a pivotal role in providing a deeper insight to link certain diseases and their effect on platelets. This review critically discusses role of platelet in dengue and other viral diseases of public health relevance, with a specific focus on the methods currently used in platelet transcriptome profiling.

Matched MeSH terms: Genomics
Fulltext Transcriptomic and Genomic Approaches for Unravelling Candida albicans Biofilm Formation and Drug Resistance-An Update

Chong PP, Chin VK, Wong WF, Madhavan P, Yong VC, Looi CY

Genes (Basel), 2018 Nov 07;9(11).
PMID: 30405082 DOI: 10.3390/genes9110540

Candida albicans is an opportunistic fungal pathogen, which causes a plethora of superficial, as well as invasive, infections in humans. The ability of this fungus in switching from commensalism to active infection is attributed to its many virulence traits. Biofilm formation is a key process, which allows the fungus to adhere to and proliferate on medically implanted devices as well as host tissue and cause serious life-threatening infections. Biofilms are complex communities of filamentous and yeast cells surrounded by an extracellular matrix that confers an enhanced degree of resistance to antifungal drugs. Moreover, the extensive plasticity of the C. albicans genome has given this versatile fungus the added advantage of microevolution and adaptation to thrive within the unique environmental niches within the host. To combat these challenges in dealing with C. albicans infections, it is imperative that we target specifically the molecular pathways involved in biofilm formation as well as drug resistance. With the advent of the -omics era and whole genome sequencing platforms, novel pathways and genes involved in the pathogenesis of the fungus have been unraveled. Researchers have used a myriad of strategies including transcriptome analysis for C. albicans cells grown in different environments, whole genome sequencing of different strains, functional genomics approaches to identify critical regulatory genes, as well as comparative genomics analysis between C. albicans and its closely related, much less virulent relative, C. dubliniensis, in the quest to increase our understanding of the mechanisms underlying the success of C. albicans as a major fungal pathogen. This review attempts to summarize the most recent advancements in the field of biofilm and antifungal resistance research and offers suggestions for future directions in therapeutics development.

Matched MeSH terms: Genomics
Fulltext Applications of Next-Generation Sequencing Technologies and Computational Tools in Molecular Evolution and Aquatic Animals Conservation Studies: A Short Review

Tan MP, Wong LL, Razali SA, Afiqah-Aleng N, Mohd Nor SA, Sung YY, et al.

Evol Bioinform Online, 2019;15:1176934319892284.
PMID: 31839703 DOI: 10.1177/1176934319892284

Aquatic ecosystems that form major biodiversity hotspots are critically threatened due to environmental and anthropogenic stressors. We believe that, in this genomic era, computational methods can be applied to promote aquatic biodiversity conservation by addressing questions related to the evolutionary history of aquatic organisms at the molecular level. However, huge amounts of genomics data generated can only be discerned through the use of bioinformatics. Here, we examine the applications of next-generation sequencing technologies and bioinformatics tools to study the molecular evolution of aquatic animals and discuss the current challenges and future perspectives of using bioinformatics toward aquatic animal conservation efforts.

Matched MeSH terms: Genomics
De novo whole genome sequencing data of two mangrove-isolated microalgae from Terengganu coastal waters

Teh KY, Afifudeen CLW, Aziz A, Wong LL, Loh SH, Cha TS

Data Brief, 2019 Dec;27:104680.
PMID: 31720332 DOI: 10.1016/j.dib.2019.104680

Interest in harvesting potential benefits from microalgae renders it necessary to have the many ecological niches of a single species to be investigated. This dataset comprises de novo whole genome assembly of two mangrove-isolated microalgae (from division Chlorophyta); Chlorella vulgaris UMT-M1 and Messastrum gracile SE-MC4 from Universiti Malaysia Terengganu, Malaysia. Library runs were carried out with 2 × 150 base paired-ends reads, whereas sequencing was conducted using Illumina Novaseq 2500 platform. Sequencing yielded raw reads amounting to ∼11 Gb in total bases for both species and was further assembled de novo. Genome assembly resulted in a 50.15 Mbp and 60.83 Mbp genome size for UMT-M1 and SE-MC4, respectively. All filtered and assembled genomic data sequences have been submitted to National Centre for Biotechnology Information (NCBI) and can be located at DDBJ/ENA/GenBank under the accession of VJNP00000000 (UMT-M1) and VIYE00000000 (SE-MC4).

Matched MeSH terms: Genomics
Characterisation of simple sequence repeats in the Asian seabass, Lates Calcarifer by random sequencing

Wan KL, Chong PP, Adura Mohd. Adnan

Sains Malaysiana, 2011;40.

In recent years, there has been considerable interest in simple sequence repeats (SSRs) particularly as molecular markers with applications in many different fields. We have carried out an effort to identify and analyse SSRs in the genome of the Asian seabass, Lates calcarifer by random sequencing. Genomic DNA was isolated from the muscle tissue of L. calcarifer, sheared by nebulisation and ligated into plasmid vector. Recombinant clones were selected randomly from the genomic libraries constructed. Subsequently, plasmid DNA was extracted and subjected to one-pass sequencing. A total of 4175 random sequences, also known as genome survey sequences (GSSs), with a total length of 1.7 Mb was generated. Screening of the whole L. calcarifer GSS data set allowed for the identification of a total of 151 perfect (100% similarity) SSRs. These SSR consensus patterns spread over a wide range of size (1 to 226 bp). The most frequent consensus pattern is dinucleotide, which represents 60% of all SSRs identified. The dinucleotides (AC)n, (AT)n and (AG)n were also found to occur frequently in the L. calcarifer genome. Sequence comparison between L. calcarifer and other fish species showed variation in repeat content, indicating the different ways in which repeats may evolve in the genome of these species. Data generated from this random sequencing of the L. calcarifer genome should serve as a valuable resource for further studies of this organism.

Matched MeSH terms: Genomics
Combining Understanding of Immunological Mechanisms and Genetic Variants Toward Development of Personalized Medicine for Psoriasis Patients

Gunter NV, Yap BJM, Chua CLL, Yap WH

Front Genet, 2019;10:395.
PMID: 31130981 DOI: 10.3389/fgene.2019.00395

Psoriasis is multifactorial disease with complex genetic predisposition. Recent advances in genetics and genomics analyses have provided many insights into the relationship between specific genetic predisposition and the immunopathological mechanisms driving psoriasis manifestation. Novel approaches which utilize array-based genotyping technologies such as genome-wide association studies and bioinformatics tools for transcriptomics analysis have identified single nucleotide polymorphisms, genes and pathways that are associated with psoriasis. The discovery of these psoriasis-associated susceptibility loci, autoimmune targets and altered signaling pathways have provided opportunities to bridge the gap of knowledge from sequence to consequence, allowing new therapeutic strategies for the treatment of psoriasis to be developed. Here, we discuss recent advances in the field by highlighting how immune functions associated with psoriasis susceptibility loci may contribute to disease pathogenesis in different populations. Understanding the genetic variations in psoriasis and how these may influence the immunological pathways to cause disease will contribute to the efforts in developing novel and targeted personalized therapies for psoriasis patients.

Matched MeSH terms: Genomics
Fulltext Data on genome resequencing of pigmented and non-pigmented Malaysian rice varieties

Zainal-Abidin RA, Zainal Z, Mohamed-Hussein ZA, Sew YS, Simoh S, Ab Razak S, et al.

Data Brief, 2020 Aug;31:105806.
PMID: 32566707 DOI: 10.1016/j.dib.2020.105806

The genomics and genetic data of pigmented and non-pigmented Malaysian rice varieties are still limited. Hence, we performed the genome resequencing of two black rice varieties (Bali, Pulut Hitam 9), two red rice varieties (MRM16, MRQ100) and two white rice varieties (MR297 and MRQ76) using Illumina HiSeq 4000 platform with 30x sequencing coverage. We aimed to identify and annotate single nucleotide polymorphisms (SNPs) from the genome of these four pigmented and two non-pigmented rice varieties. The potential SNPs will be used in developing the functional SNP markers related to nutritional (i.e. antioxidant, folate, amylose) and quality (i.e. aromatic) traits. Raw data of the pigmented and non-pigmented rice varieties have been deposited into the European Nucleotide Archive (ENA) database with accession number PRJEB29070 and PRJEB32344, respectively.

Matched MeSH terms: Genomics
Reconstruction of the Austronesian Diaspora in the Era of Genomics

Chambers GK, Edinur HA

Hum Biol, 2021 10;92(4):247-263.
PMID: 34665569 DOI: 10.13110/humanbiology.92.4.04

The Austronesian Diaspora is a 5,000-year account of how a small group of Taiwanese farmers expanded to occupy territories reaching halfway around the world. Reconstructing their detailed history has spawned many academic contests across many disciplines. An outline orthodox version has eventually emerged but still leaves many unanswered questions. The remarkable power of whole-genome technology has now been applied to people across the entire region. This review gives an account of this era of genetic investigation and discusses its many achievements, including revelation in detail of many unexpected patterns of population movement and the significance of this information for medical genetics.

Matched MeSH terms: Genomics
Evaluation of genetic diversity of Clinacanthus nutans (Acanthaceaea) using RAPD, ISSR and RAMP markers

Ismail NZ, Arsad H, Samian MR, Ab Majid AH, Hamdan MR

Physiol Mol Biol Plants, 2016 Oct;22(4):523-534.
PMID: 27924125

Three polymerase chain reaction (PCR) techniques were compared to analyse the genetic diversity of Clinacanthus nutans eight populations in the northern region of Peninsular Malaysia. The PCR techniques were random amplified polymorphic deoxyribonucleic acids (RAPD), inter-simple sequence repeats (ISSR) and random amplified microsatellite polymorphisms (RAMP). Leaf genomic DNA was PCR amplified using 17 RAPD, 8 ISSR and 136 RAMP primers . However, only 10 RAPD primers, 5 ISSR primers and 37 RAMP primers produced reproducible bands. The results were evaluated for polymorphic information content (PIC), marker index (MI) and resolving power (RP). The RAMP marker was the most useful marker compared to RAPD and ISSR markers because it showed the highest average value of PIC (0.25), MI (11.36) and RP (2.86). The genetic diversity showed a high percentage of polymorphism at the species level compared to the population level. Furthermore, analysis of molecular variance revealed that the genetic diversity was higher within populations, as compared to among populations of C. nutans. From the results, the RAMP technique was recommended for the analysis of genetic diversity of C. nutans.

Matched MeSH terms: Genomics
Fulltext Detection and genetic characterization of canine astroviruses in pet dogs in Guangxi, China

Zhou H, Liu L, Li R, Qin Y, Fang Q, Balasubramaniam VR, et al.

Virol J, 2017 08 17;14(1):156.
PMID: 28814340 DOI: 10.1186/s12985-017-0823-4

BACKGROUND: Astroviruses (AstVs) have been reported to infect and cause gastroenteritis in most animal species. Human AstVs were regarded the causative agent of viral diarrhea in children. In dogs, little is known about the epidemiology and clinical significance of AstV infection.
FINDINGS: In this study, we collected and tested 253 rectal swabs from pet dogs; of which 64 samples (25.3%) tested positive for AstVs with diarrhea and 15 more samples (5.9%) also was identified as AstVs, however without any clinical signs. Phylogenetic analysis of 39 partial ORF1b sequences from these samples revealed that they are similar to AstVs, which can be subdivided into three lineages. Interestingly, out of the 39 isolates sequenced, 16 isolates are shown to be in the Mamastrovirus 5/canine astrovirus (CAstV) lineage and the remaining 23 isolates displayed higher similarities with known porcine astrovirus (PoAstV) 5 and 2. Further, analysis of 13 capsid sequences from these isolates showed that they are closely clustered with Chinese or Italy CAstV isolates.
CONCLUSIONS: The findings indicate that CAstVs commonly circulate in pet dogs, and our sequencing results have shown the genomic diversity of CAstVs leading to increasing number of clusters.

Matched MeSH terms: Genomics
A genome-wide characterization of copy number variations in native populations of Peninsular Malaysia

Fu R, Mokhtar SS, Phipps ME, Hoh BP, Xu S

Eur J Hum Genet, 2018 06;26(6):886-897.
PMID: 29476164 DOI: 10.1038/s41431-018-0120-8

Copy number variations (CNVs) are genomic structural variations that result from the deletion or duplication of large genomic segments. The characterization of CNVs is largely underrepresented, particularly those of indigenous populations, such as the Orang Asli in Peninsular Malaysia. In the present study, we first characterized the genome-wide CNVs of four major native populations from Peninsular Malaysia, including the Malays and three Orang Asli populations; namely, Proto-Malay, Senoi, and Negrito (collectively called PM). We subsequently assessed the distribution of CNVs across the four populations. The resulting global CNV map revealed 3102 CNVs, with an average of more than 100 CNVs per individual. We identified genes harboring CNVs that are highly differentiated between PM and global populations, indicating that these genes are predominantly enriched in immune responses and defense functions, including APOBEC3A_B, beta-defensin genes, and CCL3L1, followed by other biological functions, such as drug and toxin metabolism and responses to radiation, suggesting some attributions between CNV variations and adaptations of the PM groups to the local environmental conditions of tropical rainforests.

Matched MeSH terms: Genomics
Gene Mutations as Emerging Biomarkers and Therapeutic Targets for Relapsed Acute Myeloid Leukemia

Aziz H, Ping CY, Alias H, Ab Mutalib NS, Jamal R

Front Pharmacol, 2017;8:897.
PMID: 29270125 DOI: 10.3389/fphar.2017.00897

It is believed that there are key differences in the genomic profile between adult and childhood acute myeloid leukemia (AML). Relapse is the significant contributor of mortality in patients with AML and remains as the leading cause of cancer death among children, posing great challenges in the treatment of AML. The knowledge about the genomic lesions in childhood AML is still premature as most genomic events defined in children were derived from adult cohorts. However, the emerging technologies of next generation sequencing have narrowed the gap of knowledge in the biology of AML by the detection of gene mutations for each sub-type which have led to the improvement in terms of prognostication as well as the use of targeted therapies. In this review, we describe the recent understanding of the genomic landscape including the prevalence of mutation, prognostic impact, and targeted therapies that will provide an insight into the pathogenesis of AML relapse in both adult and childhood cases.

Matched MeSH terms: Genomics
Integrated consensus genetic map and genomic scaffold re-ordering of oil palm (Elaeis guineensis) genome

Mohd Sanusi NSN, Rosli R, Chan KL, Halim MAA, Ting NC, Singh R, et al.

Comput Biol Chem, 2023 Feb;102:107801.
PMID: 36528019 DOI: 10.1016/j.compbiolchem.2022.107801

A high-quality reference genome is an important resource that can help decipher the genetic basis of traits in combination with linkage or association analyses. The publicly available oil palm draft genome sequence of AVROS pisifera (EG5) accounts for 1.535 Gb of the 1.8 Gb oil palm genome. However, the assemblies are fragmented, and the earlier assembly only had 43% of the sequences placed on pseudo-chromosomes. By integrating a number of SNP and SSR-based genetic maps, a consensus map (AM_EG5.1), comprising of 828.243 Mb genomic scaffolds anchored to 16 pseudo-chromosomes, was generated. This accounted for 54% of the genome assembly, which is a significant improvement to the original assembly. The total length of N50 scaffolds anchored to the pseudo-chromosomes increased by ∼18% compared to the previous assembly. A total of 139 quantitative trait loci for agronomically important quantitative traits, sourced from literature, were successfully mapped on the new pseudo-chromosomes. The improved assembly could also be used as a reference to identify potential errors in placement of specific markers in the linkage groups of the genetic maps used to assemble the consensus map. The 3422 unique markers from five genetic maps, anchored to the pseudo-chromosomes of AM_EG5.1, are an important resource that can be used preferentially to either construct new maps or fill gaps in existing genetic maps. Synteny analysis further revealed that the AM_EG5.1 had high collinearity with the date palm genome cultivar 'Barhee BC4' and shared most of its segmental duplications. This improved chromosomal-level genome is a valuable resource for genetic research in oil palm.

Matched MeSH terms: Genomics
scGGAN: single-cell RNA-seq imputation by graph-based generative adversarial network

Huang Z, Wang J, Lu X, Mohd Zain A, Yu G

Brief Bioinform, 2023 Mar 19;24(2).
PMID: 36733262 DOI: 10.1093/bib/bbad040

Single-cell RNA sequencing (scRNA-seq) data are typically with a large number of missing values, which often results in the loss of critical gene signaling information and seriously limit the downstream analysis. Deep learning-based imputation methods often can better handle scRNA-seq data than shallow ones, but most of them do not consider the inherent relations between genes, and the expression of a gene is often regulated by other genes. Therefore, it is essential to impute scRNA-seq data by considering the regional gene-to-gene relations. We propose a novel model (named scGGAN) to impute scRNA-seq data that learns the gene-to-gene relations by Graph Convolutional Networks (GCN) and global scRNA-seq data distribution by Generative Adversarial Networks (GAN). scGGAN first leverages single-cell and bulk genomics data to explore inherent relations between genes and builds a more compact gene relation network to jointly capture the homogeneous and heterogeneous information. Then, it constructs a GCN-based GAN model to integrate the scRNA-seq, gene sequencing data and gene relation network for generating scRNA-seq data, and trains the model through adversarial learning. Finally, it utilizes data generated by the trained GCN-based GAN model to impute scRNA-seq data. Experiments on simulated and real scRNA-seq datasets show that scGGAN can effectively identify dropout events, recover the biologically meaningful expressions, determine subcellular states and types, improve the differential expression analysis and temporal dynamics analysis. Ablation experiments confirm that both the gene relation network and gene sequence data help the imputation of scRNA-seq data.

Matched MeSH terms: Genomics
Polysaccharide degradation in Cellvibrionaceae: Genomic insights of the novel chitin-degrading marine bacterium, strain KSP-S5-2, and its chitinolytic activity

Lau NS, Furusawa G

Sci Total Environ, 2024 Feb 20;912:169134.
PMID: 38070563 DOI: 10.1016/j.scitotenv.2023.169134

In this study, we present the genome characterization of a novel chitin-degrading strain, KSP-S5-2, and comparative genomics of 33 strains of Cellvibrionaceae. Strain KSP-S5-2 was isolated from mangrove sediment collected in Balik Pulau, Penang, Malaysia, and its 16S rRNA gene sequence showed the highest similarity (95.09%) to Teredinibacter franksiae. Genome-wide analyses including 16S rRNA gene sequence similarity, average nucleotide identity, digital DNA-DNA hybridization, and phylogenomics, suggested that KSP-S5-2 represents a novel species in the family Cellvibrionaceae. The Cellvibrionaceae pan-genome exhibited high genomic variability, with only 1.7% representing the core genome, while the flexible genome showed a notable enrichment of genes related to carbohydrate metabolism and transport pathway. This observation sheds light on the genetic plasticity of the Cellvibrionaceae family and the gene pools that form the basis for the evolution of polysaccharide-degrading capabilities. Comparative analysis of the carbohydrate-active enzymes across Cellvibrionaceae strains revealed that the chitinolytic system is not universally present within the family, as only 18 of the 33 genomes encoded chitinases. Strain KSP-S5-2 displayed an expanded repertoire of chitinolytic enzymes (25 GH18, two GH19 chitinases, and five GH20 β-N-acetylhexosaminidases) but lacked genes for agar, xylan, and pectin degradation, indicating specialized enzymatic machinery focused primarily on chitin degradation. Further, the strain degraded 90% of chitin after 10 days of incubation. In summary, our findings provided insights into strain KSP-S5-2's genomic potential, the genetics of its chitinolytic system, genomic diversity within the Cellvibrionaceae family in terms of polysaccharide degradation, and its application for chitin degradation.

Matched MeSH terms: Genomics

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