The ITHANET-Human Variome Project: Moving Functional Annotation Forward

Petros Kountouris,Coralea Stephanou,Carsten W. Lederer,Stella Tamana,Anna Minaidou,Maria Xenophontos,Michael Angastiniotis,Androulla Eleftheriou,Bin Alwi Zilfalil,Raj Ramesar,Jacques Elion,Helen M. Robinson,Marina Kleanthous

The ITHANET-Human Variome Project: Moving Functional Annotation Forward

2019

Petros Kountouris
Coralea Stephanou
Carsten W. Lederer
Stella Tamana
Anna Minaidou
Maria Xenophontos
Michael Angastiniotis
Androulla Eleftheriou
Bin Alwi Zilfalil
Raj Ramesar
Jacques Elion
Helen M. Robinson
Marina Kleanthous

Hemoglobinopathies are the most common monogenic diseases, with millions of carriers and patients worldwide. Online resources for hemoglobinopathies are largely divided into specialized sites cater...

Keywords:

Annotation
Human Variome Project
Biology
Computational biology
Genetics
functional annotation

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