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Publications by Pier Giuseppe Colombo

Variant Discovery in Patients With Mendelian Vascular Anomalies by Next-Generation Sequencing and Their Use in Patient Clinical Management

Journal of Vascular Surgery

Cardiovascular Medicine

English

Related publications

Comparison of Causative Variant Prioritization Tools Using Next-Generation Sequencing Data in Japanese Patients With Mendelian Disorders

Yonago Acta Medica

English

Ethical Considerations Associated With Clinical Use of Next-Generation Sequencing in Children

Journal of Pediatrics

English

Effective Use of Next Generation Sequencing for Genetic Diag - Nosis of a Patient With a Mosaic Tsc2 Variant

TURKISH MEDICAL STUDENT JOURNAL

English

Reproducibility of Variant Calls in Replicate Next Generation Sequencing Experiments

Multidisciplinary

English

Next Generation Sequencing in Cancer Research and Clinical Application

English

Next Generation Sequencing in Cancer Research and Clinical Application

Biological Procedures Online

Molecular Biology

English

VDAP-GUI: A User-Friendly Pipeline for Variant Discovery and Annotation of Raw Next-Generation Sequencing Data

Environmental Science

Biological Sciences

English

Improved Variant Discovery Through Local Re-Alignment of Short-Read Next-Generation Sequencing Data Using SRMA

English

Integrating Next-Generation Sequencing in the Clinical Pharmacogenomics Workflow

Frontiers in Pharmacology

English