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Links and Resources

 

JPH2 VARIANT REGISTRY

International JPH2 Variant Registry
https://sites.duke.edu/jph2registry/

CHILDREN’S CARDIOMYOPATHY FOUNDATION

Children’s Cardiomyopathy Foundation (CCF) meeting the critical need for more research and education on pediatric cardiomyopathy
https://www.childrenscardiomyopathy.org/pages/childrens-cardiomyopathy-foundation/

GENOMIC DATABASES

National Center for Biotechnology Information (NCBI)
https://www.ncbi.nlm.nih.gov

Ensembl genome browser
https://www.ensembl.org/

HUMAN GENETICS

Online Mendelian Inheritance in Man (OMIM) catalogue of human genes and genetic disorders
https://www.omim.org

ClinVar (NCBI) aggregate information on human genetic variation and its relationship to health
https://www.ncbi.nlm.nih.gov/clinvar/

ClinVitae (Invitae) database of clinically-observed genetic variation
http://clinvitae.invitae.com

Human Genome Variation Society (HGVS) mutation nomenclature reference
http://varnomen.hgvs.org

HUGO Gene Nomenclature Committee (HGNC) approved human gene acronym nomenclature
https://www.genenames.org

HUMAN EXOME & GENOME PROJECTS

Genome Aggregation Database (gnomAD)
http://gnomad.broadinstitute.org

Exome Aggregation Database (ExAC)
http://exac.broadinstitute.org

NHLBI Exome Sequencing Project (ESP)
http://evs.gs.washington.edu/EVS/

1000 Genomes Project
http://grch37.ensembl.org/index.html

Database of Genomic Variants (DGC) structural variation
http://dgv.tcag.ca/dgv/app/home

MOLECULAR BIOLOGY TOOLS

Primer BLAST (NCBI) for designing primers for PCR and qPCR
https://www.ncbi.nlm.nih.gov/tools/primer-blast/

MultiAlin for FASTA format-based sequence alignment
http://multalin.toulouse.inra.fr/multalin/

Splice Prediction Tools – PhenoSystems:
http://www.phenosystems.com/www/index.php/links-to-various-tools-and-information/splice-prediction-tools

Oligo Calc – Oligonucleotide Properties Calculator
http://biotools.nubic.northwestern.edu/OligoCalc.html

HUMAN INDUCED PLURIPOTENT STEM CELL (IPSC) RESOURCES

Allen Institute – Cell Explorer
https://www.allencell.org

Allen Institute – Methods and Video Tutorials for iPSCs and iPSC-CM differentiation
https://www.allencell.org/instructional-videos-and-tutorials-for-cell-methods.html

StemCell Technologies – Scientific Resources
https://www.stemcell.com/technical-resources/area-of-interest/pluripotent-stem-cell-research.html

LAB RESOURCES (DUKE NETID REQUIRED)

Duke Electronic Lab Notebook:

LabArchives

Animal and Core Facility Resources:

Duke Animal Care and Use Program

mLIMS

Duke CoreResearch

Subject and Sample Registration:

Duke iRIS (IRB)

Duke REDCap (database)

Duke OnCore (subject registration)

Duke LabVantage (sample registration)

Software Resources:

Endnote

Duke Software

Qualtrics

Messaging & Video Conferencing:

Slack

Zoom