Update sample_questions.json
Browse filesRename `clinical_info` to `clinical_context`
- sample_questions.json +16 -16
sample_questions.json
CHANGED
@@ -11,7 +11,7 @@
|
|
11 |
"zygosity": "hemizygous"
|
12 |
}
|
13 |
],
|
14 |
-
"
|
15 |
},
|
16 |
"question": "To which of the following targeted therapies would this variant be most likely amenable: Golodirsen, Viltolarsen, Eteplirsen, Casimersen, Ataluren, or None?",
|
17 |
"answer": "Eteplirsen",
|
@@ -32,7 +32,7 @@
|
|
32 |
"zygosity": "hemizygous"
|
33 |
}
|
34 |
],
|
35 |
-
"
|
36 |
},
|
37 |
"question": "To which of the following targeted therapies would this variant be most likely amenable: Golodirsen, Viltolarsen, Eteplirsen, Casimersen, Ataluren, or None?",
|
38 |
"answer": "Ataluren",
|
@@ -53,7 +53,7 @@
|
|
53 |
"zygosity": "hemizygous"
|
54 |
}
|
55 |
],
|
56 |
-
"
|
57 |
},
|
58 |
"question": "To which of the following targeted therapies would this variant be most likely amenable: Eteplirsen, Golodirsen, Viltolarsen, Casimersen, Ataluren, or None?",
|
59 |
"answer": "None",
|
@@ -74,7 +74,7 @@
|
|
74 |
"zygosity": "homozygous"
|
75 |
}
|
76 |
],
|
77 |
-
"
|
78 |
},
|
79 |
"question": "What targeted, small molecule therapy is available for this patient? Provide the generic name or None.",
|
80 |
"answer": "Pyridoxine",
|
@@ -95,7 +95,7 @@
|
|
95 |
"zygosity": "homozygous"
|
96 |
}
|
97 |
],
|
98 |
-
"
|
99 |
},
|
100 |
"question": "Is this patient predicted to be responsive to pyridoxine? Answer yes or no.",
|
101 |
"answer": "No",
|
@@ -116,7 +116,7 @@
|
|
116 |
"zygosity": "homozygous"
|
117 |
}
|
118 |
],
|
119 |
-
"
|
120 |
},
|
121 |
"question": "What targeted, genetic therapies are approved for this patient in the US? Provide the generic name.",
|
122 |
"answer": "Lumasiran",
|
@@ -137,7 +137,7 @@
|
|
137 |
"zygosity": "homozygous"
|
138 |
}
|
139 |
],
|
140 |
-
"
|
141 |
},
|
142 |
"question": "What is the youngest age for which a gene therapy is approved for this patient's genetic condition in the united kingdom? Answer with the format \"X months\".",
|
143 |
"answer": "18 months",
|
@@ -158,7 +158,7 @@
|
|
158 |
"zygosity": "heterozygous"
|
159 |
}
|
160 |
],
|
161 |
-
"
|
162 |
},
|
163 |
"question": "What two medications are most established for decreasing bruising? List generic names in alphabetical order",
|
164 |
"answer": "ascorbic acid, desmopressin",
|
@@ -179,7 +179,7 @@
|
|
179 |
"zygosity": "heterozygous"
|
180 |
}
|
181 |
],
|
182 |
-
"
|
183 |
},
|
184 |
"question": "What clinical trial developing a new therapeutic for this condition is recruiting or listed as upcoming/not yet recruiting? Return a clinical trials ID",
|
185 |
"answer": "NCT05402384",
|
@@ -200,7 +200,7 @@
|
|
200 |
"zygosity": "heterozygous"
|
201 |
}
|
202 |
],
|
203 |
-
"
|
204 |
},
|
205 |
"question": "Is this patient eligible for clinical trial NCT05402384? Answer yes or no.",
|
206 |
"answer": "No",
|
@@ -221,7 +221,7 @@
|
|
221 |
"zygosity": "heterozygous"
|
222 |
}
|
223 |
],
|
224 |
-
"
|
225 |
},
|
226 |
"question": "For which clinical trials evaluating new therapeutics is this patient eligible? Provide a clinical trial ID or answer None.",
|
227 |
"answer": "None",
|
@@ -242,7 +242,7 @@
|
|
242 |
"zygosity": "heterozygous"
|
243 |
}
|
244 |
],
|
245 |
-
"
|
246 |
},
|
247 |
"question": "Is it more likely amenable to treatment with Memantine, L-serine, or Radiprodil",
|
248 |
"answer": "L-Serine",
|
@@ -263,7 +263,7 @@
|
|
263 |
"zygosity": "homozygous"
|
264 |
}
|
265 |
],
|
266 |
-
"
|
267 |
},
|
268 |
"question": "How many amino acids are coded for by the exon in which this variant occurs? Answer with a number",
|
269 |
"answer": "66",
|
@@ -284,7 +284,7 @@
|
|
284 |
"zygosity": "homozygous"
|
285 |
}
|
286 |
],
|
287 |
-
"
|
288 |
},
|
289 |
"question": "What percentage of the total coding transcript for this gene are encoded by the exon in which this variant occurs? Answer with a decimal to nearest tenth.",
|
290 |
"answer": "0.1",
|
@@ -305,7 +305,7 @@
|
|
305 |
"zygosity": "heterozygous"
|
306 |
}
|
307 |
],
|
308 |
-
"
|
309 |
},
|
310 |
"question": "Based on typical prediction rules, is this variant likely to result in nonsense mediated decay? Answer yes or no.",
|
311 |
"answer": "No",
|
@@ -326,7 +326,7 @@
|
|
326 |
"zygosity": "heterozygous"
|
327 |
}
|
328 |
],
|
329 |
-
"
|
330 |
},
|
331 |
"question": "In which functional domain does this variant occur? Answer choices: CSRD, TBD, GRD, Sec14-PH, HLR, NLS, SBR.",
|
332 |
"answer": "GRD",
|
|
|
11 |
"zygosity": "hemizygous"
|
12 |
}
|
13 |
],
|
14 |
+
"clinical_context": "Progressive muscle weakness"
|
15 |
},
|
16 |
"question": "To which of the following targeted therapies would this variant be most likely amenable: Golodirsen, Viltolarsen, Eteplirsen, Casimersen, Ataluren, or None?",
|
17 |
"answer": "Eteplirsen",
|
|
|
32 |
"zygosity": "hemizygous"
|
33 |
}
|
34 |
],
|
35 |
+
"clinical_context": "Progressive muscle weakness"
|
36 |
},
|
37 |
"question": "To which of the following targeted therapies would this variant be most likely amenable: Golodirsen, Viltolarsen, Eteplirsen, Casimersen, Ataluren, or None?",
|
38 |
"answer": "Ataluren",
|
|
|
53 |
"zygosity": "hemizygous"
|
54 |
}
|
55 |
],
|
56 |
+
"clinical_context": "Progressive muscle weakness"
|
57 |
},
|
58 |
"question": "To which of the following targeted therapies would this variant be most likely amenable: Eteplirsen, Golodirsen, Viltolarsen, Casimersen, Ataluren, or None?",
|
59 |
"answer": "None",
|
|
|
74 |
"zygosity": "homozygous"
|
75 |
}
|
76 |
],
|
77 |
+
"clinical_context": "Recurrent nephrocalcinosis and chronic kidney disease"
|
78 |
},
|
79 |
"question": "What targeted, small molecule therapy is available for this patient? Provide the generic name or None.",
|
80 |
"answer": "Pyridoxine",
|
|
|
95 |
"zygosity": "homozygous"
|
96 |
}
|
97 |
],
|
98 |
+
"clinical_context": "Recurrent nephrocalcinosis and chronic kidney disease"
|
99 |
},
|
100 |
"question": "Is this patient predicted to be responsive to pyridoxine? Answer yes or no.",
|
101 |
"answer": "No",
|
|
|
116 |
"zygosity": "homozygous"
|
117 |
}
|
118 |
],
|
119 |
+
"clinical_context": "7 year old with recurrent nephrocalcinosis and chronic kidney disease"
|
120 |
},
|
121 |
"question": "What targeted, genetic therapies are approved for this patient in the US? Provide the generic name.",
|
122 |
"answer": "Lumasiran",
|
|
|
137 |
"zygosity": "homozygous"
|
138 |
}
|
139 |
],
|
140 |
+
"clinical_context": "Global developmental delay"
|
141 |
},
|
142 |
"question": "What is the youngest age for which a gene therapy is approved for this patient's genetic condition in the united kingdom? Answer with the format \"X months\".",
|
143 |
"answer": "18 months",
|
|
|
158 |
"zygosity": "heterozygous"
|
159 |
}
|
160 |
],
|
161 |
+
"clinical_context": "joint hypermobility, skin hyperextensibility, and easy bruising"
|
162 |
},
|
163 |
"question": "What two medications are most established for decreasing bruising? List generic names in alphabetical order",
|
164 |
"answer": "ascorbic acid, desmopressin",
|
|
|
179 |
"zygosity": "heterozygous"
|
180 |
}
|
181 |
],
|
182 |
+
"clinical_context": "Patient with SLC35A2-CDG who is experiencing seizures and global developmental delay"
|
183 |
},
|
184 |
"question": "What clinical trial developing a new therapeutic for this condition is recruiting or listed as upcoming/not yet recruiting? Return a clinical trials ID",
|
185 |
"answer": "NCT05402384",
|
|
|
200 |
"zygosity": "heterozygous"
|
201 |
}
|
202 |
],
|
203 |
+
"clinical_context": "seizures and global developmental delay. Age 2 months, Hemoglobin 5, Normal liver labs, Not enrolled in other trials"
|
204 |
},
|
205 |
"question": "Is this patient eligible for clinical trial NCT05402384? Answer yes or no.",
|
206 |
"answer": "No",
|
|
|
221 |
"zygosity": "heterozygous"
|
222 |
}
|
223 |
],
|
224 |
+
"clinical_context": "early-onset seizures and developmental delays"
|
225 |
},
|
226 |
"question": "For which clinical trials evaluating new therapeutics is this patient eligible? Provide a clinical trial ID or answer None.",
|
227 |
"answer": "None",
|
|
|
242 |
"zygosity": "heterozygous"
|
243 |
}
|
244 |
],
|
245 |
+
"clinical_context": "intellectual disability, seizures, and developmental delays"
|
246 |
},
|
247 |
"question": "Is it more likely amenable to treatment with Memantine, L-serine, or Radiprodil",
|
248 |
"answer": "L-Serine",
|
|
|
263 |
"zygosity": "homozygous"
|
264 |
}
|
265 |
],
|
266 |
+
"clinical_context": "progressive cerebellar ataxia and peripheral neuropathy"
|
267 |
},
|
268 |
"question": "How many amino acids are coded for by the exon in which this variant occurs? Answer with a number",
|
269 |
"answer": "66",
|
|
|
284 |
"zygosity": "homozygous"
|
285 |
}
|
286 |
],
|
287 |
+
"clinical_context": "progressive cerebellar ataxia and peripheral neuropathy"
|
288 |
},
|
289 |
"question": "What percentage of the total coding transcript for this gene are encoded by the exon in which this variant occurs? Answer with a decimal to nearest tenth.",
|
290 |
"answer": "0.1",
|
|
|
305 |
"zygosity": "heterozygous"
|
306 |
}
|
307 |
],
|
308 |
+
"clinical_context": "childhood-onset generalized dystonia"
|
309 |
},
|
310 |
"question": "Based on typical prediction rules, is this variant likely to result in nonsense mediated decay? Answer yes or no.",
|
311 |
"answer": "No",
|
|
|
326 |
"zygosity": "heterozygous"
|
327 |
}
|
328 |
],
|
329 |
+
"clinical_context": "Malignant Peripheral Nerve Sheath Tumor and Pheochromocytoma"
|
330 |
},
|
331 |
"question": "In which functional domain does this variant occur? Answer choices: CSRD, TBD, GRD, Sec14-PH, HLR, NLS, SBR.",
|
332 |
"answer": "GRD",
|