Medical Genetics 2 nd February 2010 Carrie Iwema, PhD, MLS Information Specialist in Molecular...

Medical Genetics2nd February 2010

Carrie Iwema, PhD, MLSInformation Specialist in Molecular BiologyHealth Sciences Library SystemUniversity of Pittsburgh

http://www.hsls.pitt.edu/guides/genetics


QUESTION:

?...how to locate the relevant genetic information about a

particular disorder…?

www.hsls.pitt.edu/guides/genetics


Useful (free) Online Resources (1):• search.HSLS.MolBio

• Molecular databases & tools search engine, U.Pitt• NCBI Entrez Gene

• Searchable database of genes• Online Mendelian Inheritance in Man (OMIM)

• Compendium of human genes and genetic phenotypes• GeneTests

• Medical genetics information resource• GARD

• Molecular Genetic and Rare Disease Information Center• Genetic Tools

• Genetics through a primary care lens



http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene



http://www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM



http://www.geneclinics.org/

http://rarediseases.info.nih.gov/GARD/Default.aspx?PageID=4

http://www.genetests.org/servlet/access?id=8888892&key=cymYBIxYDqhAz&fcn=y&fw=d7aj&filename=/tools/index.html


Useful (free) Online Resources (2):• BioMed Central Databases

• Catalog of biomedical databases• Genetic Association Database

• Archive of human genetic association studies• Database of Genomic Variants

• Curated catalog of structural variants in human genome• dbGAP

• Database of Genotypes & Phenotypes• Gene Gateway

• Collection of guides/tutorials on the Human Genome Project• Your Genes Your Health

• A multimedia guide to genetic disorders


http://databases.biomedcentral.com/


http://geneticassociationdb.nih.gov/

http://projects.tcag.ca/variation/

http://www.ncbi.nlm.nih.gov/gap

http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/index.shtml

http://www.ygyh.org/


HSLS Molecular Biology Info Service




NCBI Entrez Gene




NCBI—OMIM




GeneTests & GeneReviews



http://www.ncbi.nlm.nih.gov/sites/GeneTests/?db=GeneTests

Genetic and Rare Diseases Information Center



http://rarediseases.info.nih.gov/GARD/Default.aspx?PageID=4

Genetic Tools



http://www.genetests.org/servlet/access?id=8888892&key=cymYBIxYDqhAz&fcn=y&fw=d7aj&filename=/tools/index.html

BioMed Central Databases




Genetic Association Database



http://geneticassociationdb.nih.gov/

Database of Genomic Variants



http://projects.tcag.ca/variation/

dbGAP



http://www.ncbi.nlm.nih.gov/sites/entrez?db=gap

Gene Gateway



http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/index.shtml

Your Gene Your Health



http://www.ygyh.org/

Pharmacogenetics Resources:

• PharmGED • Pharmacogenetic effect database

• PharmGKB• Pharmacogenetics & pharmacogenomics

knowledge base


http://bidd.cz3.nus.edu.sg/phg/

http://www.pharmgkb.org/


PharmGED



http://bidd.cz3.nus.edu.sg/phg/

PharmGKB



http://www.pharmgkb.org/

Genetics Education Groups:

• NCHPEG • National Coalition for Health Professional

Education in Genetics• Genetic Alliance

• Genetics community advocacy organization• National Human Genome Researc

h Institute• Information about genetics and genomes,

rare diseases, patient care and more


http://www.nchpeg.org/

http://www.geneticalliance.org/

http://www.genome.gov/Health/



NCHPEG



http://www.nchpeg.org/

Genetic Alliance



http://www.geneticalliance.org/

National Human Genome Research Institute




Thank you!Any questions?

Carrie Iwema Ansuman [email protected] [email protected] 412-383-6887 412-648-1297


mailto:[email protected]

mailto:[email protected]


Date post:	19-Dec-2015
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Medical Genetics 2 nd February 2010 Carrie Iwema, PhD, MLS Information Specialist in Molecular...

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