Francesco Musacchia
A5003918176- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Genomic variations and chromosomal abnormalities
- Research on Leishmaniasis Studies
- Chromosomal and Genetic Variations
- Cancer Genomics and Diagnostics
- Gene expression and cancer classification
- Protist diversity and phylogeny
- RNA modifications and cancer
- Retinal Development and Disorders
- CRISPR and Genetic Engineering
- Craniofacial Disorders and Treatments
- Bioinformatics and Genomic Networks
- Marine and coastal plant biology
- Ocean Acidification Effects and Responses
- Single-cell and spatial transcriptomics
- Echinoderm biology and ecology
- RNA and protein synthesis mechanisms
- Marine Ecology and Invasive Species
- RNA Research and Splicing
- PARP inhibition in cancer therapy
- Image Retrieval and Classification Techniques
- Genetic factors in colorectal cancer
- SARS-CoV-2 and COVID-19 Research
- Bone and Dental Protein Studies
University of Campania "Luigi Vanvitelli"
2021-2025
Telethon Institute Of Genetics And Medicine
2017-2025
Italian Institute of Technology
2021-2025
Stazione Zoologica Anton Dohrn
2015-2022
University of Naples Federico II
2006-2015
Abstract In December 2019, an initial cluster of interstitial bilateral pneumonia emerged in Wuhan, China. A human-to-human transmission was assumed and a previously unrecognized entity, termed coronavirus disease-19 (COVID-19) due to novel (SARS-CoV-2) described. The infection has rapidly spread out all over the world Italy been first European country experiencing endemic wave with unexpected clinical severity comparison Asian countries. It shown that SARS-CoV-2 utilizes angiotensin...
The eukaryotic transcriptome is composed of thousands coding and long non-coding RNAs (lncRNAs). However, we lack a software platform to identify both RNA classes in given transcriptome. Here introduce Annocript, pipeline that combines the annotation protein transcripts with prediction putative lncRNAs whole transcriptomes. It downloads indexes needed databases, runs analysis produces human readable standard outputs together summary statistics analysis.Annocript distributed under GNU General...
Abstract Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with rare neurodevelopmental disorder structural brain anomalies facial dysmorphism. We investigated cohort 10 unrelated participants presenting global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements, dysmorphic features, seizures musculoskeletal abnormalities. MRI revealed complex pattern...
Diatoms are among the most diverse eukaryotic microorganisms on Earth, they responsible for a large fraction of primary production in oceans and can be found different habitats. Pseudo-nitzschia marine planktonic diatoms blooms coastal oceanic waters. We analyzed transcriptome three species, arenysensis, delicatissima multistriata, with levels genetic relatedness. These species have worldwide distribution last one produces neurotoxin domoic acid. were able to annotate about 80% sequences...
Abstract Challenges to the widespread application of gene therapy with adeno-associated viral (AAV) vectors include dominant conditions due gain-of-function mutations which require allele-specific knockout, as well long-term transgene expression from proliferating tissues, is hampered by AAV DNA episomal status. To overcome these challenges, we used CRISPR/Cas9-mediated homology-independent targeted integration (HITI) in retina and liver paradigmatic target tissues. We show that AAV-HITI...
ABSTRACT Background The giant squid (Architeuthis dux; Steenstrup, 1857) is an enigmatic mollusc with a circumglobal distribution in the deep ocean, except high Arctic and Antarctic waters. elusiveness of species makes it difficult to study. Thus, having genome assembled for this deep-sea–dwelling will allow several pending evolutionary questions be unlocked. Findings We present draft assembly that includes 200 Gb Illumina reads, 4 Moleculo synthetic long 108 Chicago libraries, final size...
ABSTRACT In December 2019, an initial cluster of interstitial bilateral pneumonia emerged in Wuhan, China. A human-to-human transmission was assumed and a previously unrecognized entity, termed coronavirus-disease-19 (COVID-19) due to novel coronavirus (SARS-CoV-2) described. The infection has rapidly spread out all over the world Italy been first European country experiencing endemic wave with unexpected clinical severity comparison Asian countries. It shown that SARS-CoV-2 utilizes...
Genetic diagnosis of rare diseases requires accurate identification and interpretation genomic variants. Clinical molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree rare-disease data (94.5% exomes, 5.5% genomes), performed systematic reanalysis for 6,447 individuals (3,592 male, 2,855 female) with previously undiagnosed 6,004 families. We established a collaborative, two-level review...
Next Generation Sequencing (NGS) has revolutionized genome biology, enabling the rapid sequencing of an entire human and facilitating integration Whole Genome (WGS) into both research clinical applications. The high-throughput nature NGS complex data processing required driven need for advanced computational infrastructures to analyse these large datasets. aim this work is introduce innovative bioinformatic pipeline, named GeNePi, efficient precise analysis WGS short paired-end reads. Built...
Abstract Diatoms are a fundamental microalgal phylum that thrives in turbulent environments. Despite several experimental and numerical studies, if how diatoms may profit from turbulence is still an open question. One of the leading arguments favours nutrient uptake. Morphological features, such as absence flagella, presence rigid exoskeleton micrometre size would support possible passive but beneficial role on diatoms. We demonstrate fact actively respond to non-limiting conditions....
Targeted resequencing has become the most used and cost-effective approach for identifying causative mutations of Mendelian diseases both diagnostics research purposes. Due to very rapid technological progress, NGS laboratories are expanding their capabilities address increasing number analyses. Several open source tools available build a generic variant calling pipeline, but tool able simultaneously execute multiple analyses, organize, categorize samples is still missing. Here we describe...
Retinitis pigmentosa (RP) is a clinically heterogenous disease that comprises wide range of phenotypic and genetic subtypes. Pericentral RP an atypical form characterized by bone-spicule pigmentation and/or atrophy confined in the near mid-periphery retina. In contrast to classic RP, far periphery better preserved pericentral RP. The aim this study was perform first detailed clinical analysis cohort European subjects with determine features bases disease. A total 54 from 48 independent...
Purpose: The purpose of this study was to perform a detailed longitudinal phenotyping X-linked retinitis pigmentosa (RP) caused by mutations in the RPGR gene during long follow-up period. Methods: An Italian cohort 48 male patients (from 31 unrelated families) with RPGR-associated RP clinically assessed at single center (mean = 6.5 years), including measurements best-corrected visual acuity (BCVA), Goldmann field (GVF), optical coherence tomography (OCT), fundus autofluorescence (FAF),...
The phlebotomine sand fly Phlebotomus perniciosus (Diptera: Psychodidae, Phlebotominae) is a major Old World vector of the protozoan Leishmania infantum, etiological agent visceral and cutaneous leishmaniases in humans dogs, worldwide re-emerging diseases great public health concern, affecting 101 countries. Despite growing interest study this species last years, development genomic resources has been limited so far. To increase available sequence data for P. to start studying molecular...
Here, we report the first use of massive-scale RNA-sequencing to explore seagrass response CO2 -driven ocean acidification (OA). Large-scale gene expression changes in Cymodocea nodosa occurred at levels projected by end century. C. transcriptome was obtained using Illumina RNA-Seq technology and de novo assembly, differential explored plants exposed short-term high /low pH conditions. At pCO2 , there a significant increased transcripts associated with photosynthesis, including light...
Transposable elements (TEs), activated as a response to unfavorable conditions, have been proposed contribute the generation of genetic and phenotypic diversity in diatoms. Here we explore transcriptome three warm water strains diatom Leptocylindrus aporus, possible involvement TEs their changing temperature conditions. At low (13 °C) several stress proteins were overexpressed, confirming be for L. while TE-related transcripts LTR retrotransposon superfamily most enriched transcripts. Their...
TRIP4 is one of the subunits transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in coactivation and RNA processing events. Recessive variants gene have been associated with spinal muscular atrophy bone fractures as well severe form congenital dystrophy. Here we present diagnostic journey patient cerebellar hypoplasia (PCH1) fractures. Initial exome sequencing analysis revealed no candidate variants. Reanalysis data by inclusion Solve-RD project resulted...
Abstract Background Transposable elements (TEs) widely contribute to the evolution of genomes allowing genomic innovations, generating germinal and somatic heterogeneity, giving birth long non-coding RNAs (lncRNAs). These features have been associated evolution, functioning, complexity nervous system at such a level that retrotransposition interspersed element (LINE) L1 has proposed be human cognition. Among invertebrates, octopuses are fascinating animals whose reaches high achieving...
Starfish have been instrumental in many fields of biological and ecological research. Oocytes Astropecten aranciacus, a common species native to the Mediterranean Sea East Atlantic, long used as an experimental model study meiotic maturation, fertilization, intracellular Ca2+ signaling, cell cycle controls. However, investigation underlying molecular mechanisms has often hampered by overall lack DNA or protein sequences for species. In this study, we assembled transcriptome from oocytes,...
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Next generation sequencing (NGS) has changed our approach to diagnosis of genetic disorders. Nowadays, the most comprehensive application NGS is whole genome (WGS) that able detect virtually all DNA variations. However, even after accurate WGS, many conditions remain unsolved. This may be due current protocols, based on fragmentation and short reads. To overcome these limitations, we applied a linked-read technology combines single-molecule barcoding with short-read WGS. We were assemble...