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Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities
Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities
Loss-of-function (LOF) alterations in tumour suppressor genes cannot be directly targeted. Approaches characterising gene ...
Epigenetic age and long-term cancer risk following a stroke
Epigenetic age and long-term cancer risk following a stroke
The association between increased cancer risk following a cerebrovascular event (CVE) has been previously reported. We hyp...
Genomic surveillance of multidrug-resistant organisms based on long-read sequencing
Genomic surveillance of multidrug-resistant organisms based on long-read sequencing
Multidrug-resistant organisms (MDRO) pose a significant threat to public health worldwide. The ability to identify antimic...
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens
CRISPR-Cas9 technology has revolutionised genetic screens and can inform on gene essentiality and chemo-genetic interactio...
Integrated analyses of multi-omic data derived from paired primary lung cancer and brain metastasis reveal the metabolic vulnerability as a novel therapeutic target
Integrated analyses of multi-omic data derived from paired primary lung cancer and brain metastasis reveal the metabolic vulnerability as a novel therapeutic target
Lung cancer brain metastases (LC-BrMs) are frequently associated with dismal mortality rates in patients with lung cancer;...
Gut microbiome structure and function in asymptomatic diverticulosis
Gut microbiome structure and function in asymptomatic diverticulosis
Colonic diverticulosis, the most common lesion found in routine colonoscopy, affects more than 50% of individuals agedR...
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models
Poly (ADP-ribose) polymerase 1 and 2 (PARP1/2) inhibitors (PARPi) are targeted therapies approved for homologous recombina...
Ancestry-aligned polygenic scores combined with conventional risk factors improve prediction of cardiometabolic outcomes in African populations
Ancestry-aligned polygenic scores combined with conventional risk factors improve prediction of cardiometabolic outcomes in African populations
Cardiovascular diseases (CVD) are a major health concern in Africa. Improved identification and treatment of high-risk ind...
Genome Tunisia Project: paving the way for precision medicine in North Africa
Genome Tunisia Project: paving the way for precision medicine in North Africa
Key discoveries and innovations in the field of human genetics have led to the foundation of molecular and personalized me...
Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors
Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors
Pathogenic BRCA1 or BRCA2 germline mutations contribute to hereditary breast, ovarian, prostate, and pancreatic cancer. Pa...
Identifying latent genetic interactions in genome-wide association studies using multiple traits
Identifying latent genetic interactions in genome-wide association studies using multiple traits
The "missing" heritability of complex traits may be partly explained by genetic variants interacting with other ...
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance
Implementation of clinical metagenomics and pathogen genomic surveillance can be particularly challenging due to the lack ...
Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study
Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study
The clinical utility of genetic information for type 2 diabetes (T2D) prediction with polygenic scores (PGS) in ancestrall...
imply: improving cell-type deconvolution accuracy using personalized reference profiles
imply: improving cell-type deconvolution accuracy using personalized reference profiles
Using computational tools, bulk transcriptomics can be deconvoluted to estimate the abundance of constituent cell types. H...
Mendelian randomization analyses suggest a causal role for circulating GIP and IL-1RA levels in homeostatic model assessment-derived measures of β-cell function and insulin sensitivity in Africans without type 2 diabetes
Mendelian randomization analyses suggest a causal role for circulating GIP and IL-1RA levels in homeostatic model assessment-derived measures of β-cell function and insulin sensitivity in Africans without type 2 diabetes
In vitro and in vivo studies have shown that certain cytokines and hormones may play a role in the development and progres...
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with hi...
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set
Gain-of-function (GOF) variants give rise to increased/novel protein functions whereas loss-of-function (LOF) variants lea...
Mobilizable plasmids drive the spread of antimicrobial resistance genes and virulence genes in Klebsiella pneumoniae
Mobilizable plasmids drive the spread of antimicrobial resistance genes and virulence genes in Klebsiella pneumoniae
Klebsiella pneumoniae is a notorious clinical pathogen and frequently carries various plasmids, which are the main carrier...
Personalized tumor combination therapy optimization using the single-cell transcriptome
Personalized tumor combination therapy optimization using the single-cell transcriptome
The precise characterization of individual tumors and immune microenvironments using transcriptome sequencing has provided...
A phenome-wide scan reveals convergence of common and rare variant associations
A phenome-wide scan reveals convergence of common and rare variant associations
Common and rare variants contribute to the etiology of complex traits. However, the extent to which the phenotypic effects...
GITR and TIGIT immunotherapy provokes divergent multicellular responses in the tumor microenvironment of gastrointestinal cancers
GITR and TIGIT immunotherapy provokes divergent multicellular responses in the tumor microenvironment of gastrointestinal cancers
Understanding the mechanistic effects of novel immunotherapy agents is critical to improving their successful clinical tra...
Massive underrepresentation of Arabs in genomic studies of common disease
Massive underrepresentation of Arabs in genomic studies of common disease
Arabs represent 5% of the world population and have a high prevalence of common disease, yet remain greatly underrepresent...
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer
The prognosis for patients with head and neck cancer (HNC) is poor and has improved little in recent decades, partially du...
The role of admixture in the rare variant contribution to inflammatory bowel disease
The role of admixture in the rare variant contribution to inflammatory bowel disease
Identification of rare variants involved in complex, polygenic diseases like Crohn’s disease (CD) has accelerated wi...
Building blocks for better biorepositories in Africa
Building blocks for better biorepositories in Africa
Biorepositories archive and distribute well-characterized biospecimens for research to support the development of medical ...
Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network
Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network
Early detection of hepatocellular carcinoma (HCC) is important in order to improve patient prognosis and survival rate. Me...
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnost...
Rapid profiling of Plasmodium parasites from genome sequences to assist malaria control
Rapid profiling of Plasmodium parasites from genome sequences to assist malaria control
Malaria continues to be a major threat to global public health. Whole genome sequencing (WGS) of the underlying Plasmodium...
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells
Chronic limb-threatening ischemia (CLTI), a severe manifestation of peripheral arterial disease (PAD), is associated with ...
Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications
Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications
Systemic lupus erythematosus (SLE) is known to be clinically heterogeneous. Previous efforts to characterize subsets of SL...
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