Key Resources

Disease Foundations

idreamforacure (IRF2BPL Related Disorders - funding and awareness)

Dystonia Medical Research Foundation (info about dystonia)

KAT6 Foundation (info about KAT6A and KAT6B related disorders)

Databases

FlyBase (detailed Drosophila info)

MARRVEL (one stop shop for gene and variant info)

DIOPT - DRSC Integrative Ortholog Prediction Tool (Ortholog prediction)

IMPC (International Mouse Phenotyping Consortium)

Protein Atlas (info on mammalian proteins)

SCOPE (single cell sequencing data)

gnomAD (sequencing database of control individuals)

Geno2mp (rare variants linked to phenotypic info from U of Washington)

denovo db (database of de novo variants and disease)

GeneMatcher (designed for clinicians with gene variants/phenotypic matches)

ModelMatcher (for model organism researchers to connect to clinicians with gene variants/phenotypic matches)

GeneCards (obtain latest approved gene names and past aliases)

Tools

Benchling (digital lab notebook)

Stock Centers

Bloomington Drosophila Stock Center - BDSC 

Vienna Drosophila Resource Center.-VDRC

FlyORF (UAS transgenics)

Kyoto DGRC

GenetiVision (Duplication lines)

Plasmids

Drosophila Genomics Resource Center (fly plasmids)

P[acman] libraries (genomic rescue plasmids)

Addgene (plasmid repository)

GenScript (use for identifying canonical/full-length transcripts)

TwistBioscience (use to make custom plasmids)

Reagents

Primers/oligo - TBD

Developmental Studies Hybridoma Bank (fly antibodies)