Useful Links for Genomic Medicine | Precision Medicine: A Guide to Genomics in Clinical Practice | AccessMedicine

Citation

AMA Citation
Useful Links for Genomic Medicine. In: McCarthy JJ, Mendelsohn BA. McCarthy J.J., Mendelsohn B.A. Eds. Jeanette J. McCarthy, and Bryce A. Mendelsohn.eds. Precision Medicine: A Guide to Genomics in Clinical Practice New York, NY: McGraw-Hill; . http://accessmedicine.mhmedical.com/content.aspx?bookid=1930&sectionid=140198012. Accessed April 07, 2020.

MLA Citation
. "Useful Links for Genomic Medicine." Precision Medicine: A Guide to Genomics in Clinical Practice McCarthy JJ, Mendelsohn BA. McCarthy J.J., Mendelsohn B.A. Eds. Jeanette J. McCarthy, and Bryce A. Mendelsohn. New York, NY: McGraw-Hill, , http://accessmedicine.mhmedical.com/content.aspx?bookid=1930&sectionid=140198012.

Genetic testing and diagnostics

Genome browsers

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

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