Advance in Genomics of Rare Genetic Diseases

Elena Sommariva; Milena Bellin; Chiara Di Resta

doi:10.3390/biom13101441

Advance in Genomics of Rare Genetic Diseases

Biomolecules. 2023 Sep 25;13(10):1441. doi: 10.3390/biom13101441.

Authors

Elena Sommariva¹, Milena Bellin^{2

3

4}, Chiara Di Resta^{5

6}

Affiliations

¹ Unit of Vascular Biology and Regenerative Therapy, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy.
² Department of Biology, University of Padua, 35121 Padua, Italy.
³ Veneto Institute of Molecular Medicine, 35129 Padua, Italy.
⁴ Department of Anatomy and Embryology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
⁵ Genomic Unit for the Diagnosis of Human Pathologies, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
⁶ Faculty of Medicine, Vita-Salute San Raffaele University, 20132 Milan, Italy.

Abstract

Recent technical breakthroughs in genotyping and bioinformatics techniques have greatly facilitated the translation of genomics into clinical care [...].

Publication types

Editorial

MeSH terms

Computational Biology*
Genomics* / methods
Humans
Rare Diseases / genetics