Eric Minikel's repositories
minimal_representation
Convert genetic variants to minimal representation
genetic_support
Refining the impact of genetic evidence on clinical success
drug_target_lof
Evaluating potential drug targets through human loss-of-function genetic variation
ngs-scripts
Scripts dealing with various aspects of next-gen sequence data. QC, CNVs, etc
prp_lowering
Prion protein lowering is a disease-modifying therapy across prion strains, disease stages, and endpoints
binder_screening
Screening for small-molecule PrP binders
aso_in_vitro
Characterization of the prion protein binding properties of antisense oligonucleotides
aso_survival
Antisense oligonucleotides extend survival of prion-infected mice
cns_prp_quant
PrP concentration in the central nervous system
cryptic_exon
Modulation of prion protein expression through cryptic splice site manipulation
phewas_prnp
Phenome-wide association for PRNP - analyses for a blog post
prnp_onset
Age of onset in genetic prion diease and the design of preventive clinical trials
anle138b
Therapeutic trial of anle138b in mouse models of genetic prion disease
citedown
Code for making Markdown-compatible citations
csf_prp_quantification
Quantification of PrP in CSF as a pharmacodynamic biomarker
cumulus-AC_1c
Cloud-based scalable and efficient single-cell genomics workflows
genetics_side_effects
Human genetic evidence enriches for side effects of approved drugs
gpi
Analysis of GPI-anchored proteins
hydrocephalus
Analysis of hydrocephalus reports in nusinersen
mgh_prnp_fluid_biomarkers
Results from the MGH fluid biomarker study in individuals at risk for genetic prion disease
mgh_prnp_freeze2
Biomarker changes preceding symptom onset in genetic prion disease
mino
Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker
mok_commentary
Commentary piece on Mok 2023
nd_trials
Analysis of neurodegenerative disease clinical trials
nhp_models
Analysis of NHP models of prion infection
prevention_plaidoyer
Passionate patient's prion prevention plaidoyer
prionalliance
PrionAlliance.org
prp_mrm
PrP MRM: prion protein multiple reaction monitoring