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Tx_annotation ⭐ 28

Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation"

Mito Genotyping ⭐ 13

Repo for scripts for Ludwig et al mtDNA genotyping

Frequencyfilter ⭐ 11

Allele frequency filtering for Mendelian variant discovery

Prnp_penetrance ⭐ 7

Analysis of the penetrance of missense variants and tolerability of loss-of-function variants in PRNP

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