diff --git a/src/nomadic/summarize/mutations/candidate_drug_resistance_mutations.yml b/src/nomadic/summarize/mutations/candidate_drug_resistance_mutations.yml new file mode 100644 index 0000000..d9aad41 --- /dev/null +++ b/src/nomadic/summarize/mutations/candidate_drug_resistance_mutations.yml @@ -0,0 +1,53 @@ +# YAML file containing CANDIDATE amplicon drug resistance markers in the format: +# drug name + # - gene_mutation e.g. crt_K76T + +# Taken from https://www.who.int/tools/compendium-of-molecular-markers-for-antimalarial-drug-resistance +#Genes: +# crt: Chloroquine resistance transporter +# cytb: Cytochrome b (mitochondrial) +# chfr: Dihydrofolate reductase +# dhps: Dihydropteroate synthase +# gch1: GTP-cyclohydrolase I +# k13: Kelch 13 (kelch-propeller domain protein) +# mdr1: Multidrug resistance gene 1 +# pm2/3: Plasmepsin 2 and 3 + +amodiaquine: + - crt_C72S, crt_K76T, crt_A220S, crt_N326D, crt_I356L + - mdr1_N86Y + +artemisinin: + - k13_E252Q + - k13_P441L + - k13_C469F + - k13_N537I + - k13_N537D + - k13_G538V + - k13_V568G + +chloroquine: + - crt_C72S, crt_V73, crt_M74, crt_N75, crt_K76T + - crt_C72S, crt_K76T, , crt_A220S, crt_N326D, crt_I356L + - crt_M74I, crt_N75E, crt_K76T, crt_A220S, crt_Q271E, crt_R371I + - crt_M74I, crt_N75E, crt_K76T, crt_A220S, crt_Q271E, crt_I356T, crt_R371I + - crt_M74I, crt_N75E, crt_K76T+ A220S, crt_Q271E, crt_N326S, crt_R371I + - crt_M74I, crt_N75E, crt_K76T, crt_A220S, crt_Q271E, crt_N326S, crt_I356T, crt_R371I + +sulphadoxine-pyrimethamine: + - dhfr_S108N + - dhfr_N51I, dhfr_S108N + - dhfr_C59R, dhfr_S108N + - dhfr_N51I, dhfr_C59R, dhfr_S108N + - gch1_amplification + - dhfr_C59R, dhfr_S108N, dhps_S436A + - dhfr_C59R, dhfr_S108N, dhps_A437G + - dhfr_N51I, dhfr_C59R, dhfr_S108N, dhps_A437G, dhps_A581G + - dhfr_N51I, dhfr_C59R, dhfr_S108N, dhps_S436A, dhps_A437G, dhps_K540E + - dhfr_N51I, dhfr_C59R, dhfr_S108N, dhps_A437G, dhps_A581G, dhps_613T + - dhfr_N51I, dhfr_C59R, dhfr_S108N, dhps_S436A, dhps_A437G, dhps_A613S + - dhfr_N51I, dhfr_C59R, dhfr_S108N, dhps_S436A, dhps_A437G, dhps_A581G + - dhfr_N51I, dhfr_C59R, dhfr_S108N, dhps_A437G, dhps_K540E, dhps_A581G + - dhfr_N51I, dhfr_C59R, dhfr_S108N, dhps_S436A , dhps_A437G, dhps_A581G, dhps_A613S + - dhfr_N51I, dhfr_C59R, dhfr_S108N, dhps_A437G, dhps_K540E, dhps_A581G, dhps_S436A + - dhfr_N51I, dhfr_C59R, dhfr_S108N, dhps_I431V, dhps_S436A, dhps_A437G, dhps_A581G, dhps_A613S diff --git a/src/nomadic/summarize/mutations/potential_drug_resistance_mutations.yml b/src/nomadic/summarize/mutations/potential_drug_resistance_mutations.yml new file mode 100644 index 0000000..1f46fa3 --- /dev/null +++ b/src/nomadic/summarize/mutations/potential_drug_resistance_mutations.yml @@ -0,0 +1,82 @@ +# YAML file containing POTENTIAL amplicon drug resistance markers in the format: +# drug name + # - gene_mutation e.g. crt_K76T + +# Taken from https://www.who.int/tools/compendium-of-molecular-markers-for-antimalarial-drug-resistance +#Genes: +# crt: Chloroquine resistance transporter +# cytb: Cytochrome b (mitochondrial) +# chfr: Dihydrofolate reductase +# dhps: Dihydropteroate synthase +# gch1: GTP-cyclohydrolase I +# k13: Kelch 13 (kelch-propeller domain protein) +# mdr1: Multidrug resistance gene 1 +# pm2/3: Plasmepsin 2 and 3 + +artemisinin: + - k13_P413A + - k13_F495L + - k13_R515K + - k13_M579I + - k13_D584V + - k13_P527H + - k13_G625R + - k13_K438N + - k13_G449A + - k13_T508N + - k13_Y511H + - k13_S577L + - k13_A582V + - k13_N585K + - k13_Q613E + - k13_R100K + - k13_E107V + - k13_G50E + +atovaquone: + - cytb_Y268C + - cytb_M133I + - cytb_M133I, cytb_L271F + - cytb_M133I, cytb_P275T + - cytb_M133I, cytb_K272R + - cytb_M133I, cytb_G280D + - cytb_L283I, cytb_V284K + +chloroquine: + - crt_K76T, crt_A144T, crt_L160Y, crt_N326D + +cycloguanil: + - dhfr_S108N/T + - dhfr_I164L + - dhfr_C50R, dhfr_S108N + - dhfr_A16V, dhfr_S108T + - dhfr_N51I, dhfr_C59R + - dhfr_N51I, dhfr_S108N + - dhfr_C59R, dhfr_S108N + - dhfr_N51I, dhfr_C59R, dhfr_S108N + - dhfr_N51I, dhfr_C59R, dhfr_S108N, dhfr_I164L + +lumefantrine: + - mdr1_amplification + +quinine: + - crt_Q352K + - crt_Q352R + - mdr1_amplification + - mdr1_S1034C, mdr1_N1042D, mdr1_D1246Y + +sulphadoxine-pyrimethamine: + - dhfr_N51I + - dhfr_C59R + - dhfr_I164L + - dhfr_C59R, dhfr_S108N, dhfr_I164L + - dhfr_N51I, dhfr_C59R, dhfr_S108N, dhfr_I164L + - dhps_A437G, dhps_K540E + - dhps_A437G + - dhps_S436F, dhps_A613S + - dhps_S436A, dhps_A437G + - dhps_A437G, dhps_A581G + - dhps_S436F, dhps_A437G, dhps_A613S + - dhps_S436F, dhps_A437G, dhps_A613S + - dhps_S436A, dhps_A437G, dhps_K540E + - dhps_S436A, dhps_A437G, dhps_K540E, dhps_A613T diff --git a/src/nomadic/summarize/mutations/validated_drug_resistance_mutations.yml b/src/nomadic/summarize/mutations/validated_drug_resistance_mutations.yml new file mode 100644 index 0000000..89cf7a7 --- /dev/null +++ b/src/nomadic/summarize/mutations/validated_drug_resistance_mutations.yml @@ -0,0 +1,56 @@ +# YAML file containing VALIDATED amplicon drug resistance markers in the format: +# drug name + # - gene_mutation e.g. crt_K76T + +# Taken from https://www.who.int/tools/compendium-of-molecular-markers-for-antimalarial-drug-resistance +#Genes: +# crt: Chloroquine resistance transporter +# cytb: Cytochrome b (mitochondrial) +# chfr: Dihydrofolate reductase +# dhps: Dihydropteroate synthase +# gch1: GTP-cyclohydrolase I +# k13: Kelch 13 (kelch-propeller domain protein) +# mdr1: Multidrug resistance gene 1 +# pm2/3: Plasmepsin 2 and 3 + +artemisinin: + - k13_F446I + - k13_N458Y + - k13_C469Y + - k13_M476I + - k13_Y493H + - k13_G533S + - k13_R539T + - k13_I543T + - k13_P553L + - k13_R561H + - k13_P574L + - k13_C580Y + - k13_R622I + - k13_A675V + +atovaquone: + - cytb_Y268S + +chloroquine: + - crt_K76T + - crt_C72, crt_V73, crt_M74I, crt_N75E, crt_K76T + - mdr1_N86Y + +mefloquine: + - mdr1_amplification + +piperaquine: + - crt_T93S + - crt_H97Y + - crt_F145I + - crt_I218F + - crt_C350R + - pm2/3_amplification + +sulphadoxine-pyrimethamine: + - dhfr_C59R, dhfr_S108N, dhps_K540E + - dhfr_N51I, dhfr_S108N, dhps_A437G, dhps_K540E + - dhfr_N51I, dhfr_C59R, dhfr_S108N, dhps_A437G + - dhfr_N51I, dhfr_C59R, dhfr_S108N, dhps_S436A, dhps_A437G + - dhfr_N51I, dhfr_C59R, dhfr_S108N, dhps_A437G, dhps_K540E