APPENDIX 11: Useful Links for Genomic Medicine

Genetic testing and diagnostics

www.nextgxdx.com/

www.genetests.org/

Genome browsers

genome.ucsc.edu/

www.ensembl.org/

Disease information

omim.org/

www.rarechromo.org/

www.ncbi.nlm.nih.gov/books/NBK1116/

elementsofmorphology.nih.gov/

Patient-centered disease information

www.umdf.org/

ghr.nlm.nih.gov/

www.rarechromo.org/

www.babysfirsttest.org/

Newborn screening

www.babysfirsttest.org/

www.newbornscreening.info/

genes-r-us.uthscsa.edu/

Advocacy and support

www.raregenomics.org/

www.mitoaction.org/

www.umdf.org/

www.acmg.net/

everylifefoundation.org/

globalgenes.org/

www.genome.gov/

www.acmg.net/ACMG/Advocacy/ACMG/Advocacy/Advocacy.aspx?hkey =759c3556-90cb-42a7-ba8d-af07742bf941

Trisomy 21 advocacy and support

www.ndsccenter.org/

www.ndss.org/

Variant databases and support

genematcher.org/

www.ncbi.nlm.nih.gov/clinvar/intro/

cancer.sanger.ac.uk/cosmic

exac.broadinstitute.org/

www.1000genomes.org/

dgv.tcag.ca/dgv/app/home

Physician/practitioner education and support

geneticsinprimarycare.aap.org/

genes-r-us.uthscsa.edu/resources/genetics/primary_care.htm

www.geneticmetabolic.com/

newbornscreeningeducation.org/

www.acmg.net/ACMG/Publications/Practice_Guidelines/ACMG/Publications/ Practice_Guidelines.aspx

g-2-c-2.org/

www.pathologylearning.org/trig/resources

Rare disease search engines: Note that these search engines cannot replace sound clinical experience and should be used only to supplement more traditional diagnostic approaches.

findzebra.compute.dtu.dk/

omim.org/

www.simulconsult.com/

Nutrition and dietary

dsld.nlm.nih.gov/dsld/

Metabolic disease

www.geneticmetabolic.com/

www.genome.gov/27551373