2016/2017

2017/2018

DM270

MED/03 (GENETICA MEDICA)

DIPARTIMENTO DI MEDICINA MOLECOLARE

MEDICINA E CHIRURGIA (IN LINGUA INGLESE)

PERCORSO COMUNE

2°

SECONDO SEMESTRE (05/03/2018 - 08/06/2018)

1

12 ore di attività frontale

English

ORALE

VALENTE ENZA MARIA - 1 CFU

None

Knowledge of the principal databases and software to be used in medical genetics

Practical use of the following:
- prediction software (PolyPhen, SIFT, Mutation Taster, Mutation Assessor, CADD etc)
- sequence databases (NCBI, RefSeq, Ensembl, UCSC, Genecards etc)
- Population databases (gnomAD, EVS, dbSNP etc)
- Disease databases (ClinVar, OMIM, Human Gene Mutation Database, Decipher, Leiden Open Variation Database, COSMIC etc)
- Phenotype databases (Matchmaker, Phenome Central etc).

Practical sessions with simulations taken from real cases and from the literature

Presentation slides that will be distributed along with papers and documentation that will be used during the course

Practical tests regarding the use of common databases

Office hours: by appointment. Please email: enzamaria.valente@unipv.it