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
ClinGen a resource for evidence-based assessment of a gene or variant’s association with disease
https://clinicalgenome.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:
Animal and Core Facility Resources:
Duke Animal Care and Use Program
Subject and Sample Registration:
Duke OnCore (subject registration)
Duke LabVantage (sample registration)
Software Resources:
Messaging & Video Conferencing:
