Claudio Forcato
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View article: P815: Single-cell sequencing of circulating trophoblasts for non-invasive fetal pathogenic copy number variant screening: First large-scale clinical validation study results
P815: Single-cell sequencing of circulating trophoblasts for non-invasive fetal pathogenic copy number variant screening: First large-scale clinical validation study results Open
View article: Hydatidiform mole identification using non‐invasive single‐cell sequencing of fetal circulating extravillous trophoblasts isolated from maternal blood
Hydatidiform mole identification using non‐invasive single‐cell sequencing of fetal circulating extravillous trophoblasts isolated from maternal blood Open
Figure S1: Sonographic images The fetus had multiple abnormalities including myelomeningocele, micrognathia, cleft lip, omphalocele and malpositioning of both hands with bilateral syndactyly. In the figure are depicted: (a) placenta showin…
View article: P616: Cell-based noninvasive prenatal screening for a comprehensive fetal genome profiling for pathogenic submicroscopic CNVs in circulating trophoblasts from maternal blood
P616: Cell-based noninvasive prenatal screening for a comprehensive fetal genome profiling for pathogenic submicroscopic CNVs in circulating trophoblasts from maternal blood Open
View article: Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling
Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling Open
Objective To develop a multi‐step workflow for the isolation of circulating extravillous trophoblasts (cEVTs) by describing the key steps enabling a semi‐automated process, including a proprietary algorithm for fetal cell origin genetic co…
View article: OP049: Automated isolation and genetic characterization of single circulating fetal trophoblasts in pregnant women
OP049: Automated isolation and genetic characterization of single circulating fetal trophoblasts in pregnant women Open
View article: Circulating tumor cell copy-number heterogeneity in ALK-rearranged non-small-cell lung cancer resistant to ALK inhibitors
Circulating tumor cell copy-number heterogeneity in ALK-rearranged non-small-cell lung cancer resistant to ALK inhibitors Open
Gatekeeper mutations are identified in only 50% of the cases at resistance to Anaplastic Lymphoma Kinase ( ALK )-tyrosine kinase inhibitors (TKIs). Circulating tumor cells (CTCs) are relevant tools to identify additional resistance mechani…
View article: Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant Epilepsy
Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant Epilepsy Open
Epilepsy is a heterogenous group of disorders defined by recurrent seizure activity due to abnormal synchronized activity of neurons. A growing number of epilepsy cases are believed to be caused by genetic factors and copy number variants …
View article: Precise detection of genomic imbalances at single-cell resolution reveals intra-patient heterogeneity in Hodgkin’s lymphoma
Precise detection of genomic imbalances at single-cell resolution reveals intra-patient heterogeneity in Hodgkin’s lymphoma Open
View article: Abstract 2911: Genome-wide copy number profiling of single circulating multiple myeloma cells (CMMCs) reveals intra-patient convergent copy-number alterations (CNAs)
Abstract 2911: Genome-wide copy number profiling of single circulating multiple myeloma cells (CMMCs) reveals intra-patient convergent copy-number alterations (CNAs) Open
Introduction: Multiple Myeloma (MM) evolution and heterogeneity is interesting for its potential translational relevance. Recent studies using bulk sequencing of Smoldering MM cells obtained from Bone Marrow (BM) report recurring CNA patte…
View article: Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case report
Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case report Open
View article: Identification of a High-Level MET Amplification in CTCs and cfTNA of an ALK-Positive NSCLC Patient Developing Evasive Resistance to Crizotinib
Identification of a High-Level MET Amplification in CTCs and cfTNA of an ALK-Positive NSCLC Patient Developing Evasive Resistance to Crizotinib Open
View article: High-Throughput Sequencing of microRNAs in Glucocorticoid Sensitive Paediatric Inflammatory Bowel Disease Patients
High-Throughput Sequencing of microRNAs in Glucocorticoid Sensitive Paediatric Inflammatory Bowel Disease Patients Open
The aim of this research was the identification of novel pharmacogenomic biomarkers for better understanding the complex gene regulation mechanisms underpinning glucocorticoid (GC) action in paediatric inflammatory bowel disease (IBD). Thi…
View article: A streamlined workflow for single-cells genome-wide copy-number profiling by low-pass sequencing of LM-PCR whole-genome amplification products
A streamlined workflow for single-cells genome-wide copy-number profiling by low-pass sequencing of LM-PCR whole-genome amplification products Open
Chromosomal instability and associated chromosomal aberrations are hallmarks of cancer and play a critical role in disease progression and development of resistance to drugs. Single-cell genome analysis has gained interest in latest years …
View article: QueryOR: a comprehensive web platform for genetic variant analysis and prioritization
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization Open
QueryOR is a comprehensive and flexible web platform eligible for an easy user-driven variant prioritization. It is freely available for academic institutions at http://queryor.cribi.unipd.it/ .
View article: Additional file 1: of QueryOR: a comprehensive web platform for genetic variant analysis and prioritization
Additional file 1: of QueryOR: a comprehensive web platform for genetic variant analysis and prioritization Open
This file contains supplementary figures supporting the manuscript. Figure S1 time required for uploading and processing a project. Figure S2 time required for the processing of a query. (ODT 121 kb)
View article: Digital Sorting of Pure Cell Populations Enables Unambiguous Genetic Analysis of Heterogeneous Formalin-Fixed Paraffin-Embedded Tumors by Next Generation Sequencing
Digital Sorting of Pure Cell Populations Enables Unambiguous Genetic Analysis of Heterogeneous Formalin-Fixed Paraffin-Embedded Tumors by Next Generation Sequencing Open