Thomas 1 year ago
parent
commit
cd3b469f04

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CR/ACHITE_report.pdf


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CR/AUBERT_report.pdf


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CR/BECERRA_report.pdf


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CR/CAMARA_report.pdf


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CR/CHAMPION_report.pdf


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CR/DAHAN_report.pdf


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CR/HENAUX_report.pdf


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CR/PARACHINI_report.pdf


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CR/PASSARD_report.pdf


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CR/RIVOALEN_report.pdf


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CR/SALICETTO_report.pdf


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nanopore_update_241030.pdf


+ 28 - 28
nanopore_update_241030.typ

@@ -705,7 +705,7 @@
 )
 
 #simple_dia(
-  [👥 Cohort _HOXA_ N = 14],
+  [👥 Cohort _HOXA_ --- n = 14],
   [
     #set align(center + horizon)
     #set text(16pt)
@@ -724,20 +724,20 @@
 					[*interpretation*],
           [*info*],
 
-					[ALLEMAND],	text(fill: red)[11],	[Multiples mutations de _MLLT3_ + hotspot CSF3R], [❓], [],
-					[BELARBI],	text(fill: yellow)[13],	[Altération de GATA3 + KMT2C], [❓], [],
+					[ALLEMAND],	text(fill: red)[11],	[Multiples mutations de _MLLT3_ + hotspot _CSF3R_], [❓], [],
+					[BELARBI],	text(fill: yellow)[13],	[Altération de _GATA3_ + _KMT2C_], [❓], [],
 					[BERNIER], text(fill: green)[15],	[DPP10::SET], [✅], [],
-					[BOUDJELTHIA], text(fill: yellow)[13],	[KMT2E ter], [❓], [JAK/STAT],
-					[GARAGNON], text(fill: green)[13],	[TRB::HOXA inv7], [✅], [JAK/STAT],
-					[HATTAB],	text(fill: red)[11], [AFDN::KMT2A], [✅], [],
+					[BOUDJELTHIA], text(fill: yellow)[13],	[_KMT2E_ ter], [❓], [JAK/STAT],
+					[GARAGNON], text(fill: green)[13],	[TRB::HOXA *inv7*], [✅], [JAK/STAT],
+					[HATTAB],	text(fill: red)[11], [AFDN::KMT2A *t(6;11)*], [✅], [],
 					[KENNOUCHE],	[_en cours_],	[], [], [],
 					[LAVIDALE],	[_en cours_],	[], [], [],
 					[MANCUSO],	text(fill: red)[10], [TNRC18::KMT2A], [✅], [],
-					[MERY],	text(fill: green)[16], [TRB::HOXA inv7], [✅], [JAK/STAT],
+					[MERY],	text(fill: green)[16], [TRB::HOXA *inv7*], [✅], [JAK/STAT],
 					[MICHELAS],	[_en cours_],	[], [], [],
-					[MIGAUD],	text(fill: green)[26], [mutation EN1 (homeobox)], [❓], [],
-					[MORIN],	text(fill: green)[22], [TRB::HOXA inv7], [✅], [JAK/STAT],
-					[SAUTRE],	text(fill: green)[28], [AFDN::KMT2A], [✅], []
+					[MIGAUD],	text(fill: green)[26], [mutation _EN1_ (homeobox)], [❓], [],
+					[MORIN],	text(fill: green)[22], [TRB::HOXA *inv7*], [✅], [JAK/STAT],
+					[SAUTRE],	text(fill: green)[28], [AFDN::KMT2A *t(6;11)*], [✅], []
         )
       ],
       [],
@@ -937,7 +937,7 @@
 // )
 
 #simple_dia(
-  [🧬 Interesting results: _HOXA9_],
+  [🧬 Interesting results --- _HOXA9_],
   [
     #set align(center + horizon)
 
@@ -985,7 +985,7 @@
 )
 
 #simple_dia(
-  [🧬 Interesting results: _HOXA9_],
+  [🧬 Interesting results --- _HOXA9_],
   [
     #double_boxes(
       auto,
@@ -1008,7 +1008,7 @@
 )
 
 #simple_dia(
-  [🧬 Interesting results: _HOXA9_],
+  [🧬 Interesting results --- _HOXA9_],
   [
     #double_boxes(
       auto,
@@ -1031,7 +1031,7 @@
 )
 
 #simple_dia(
-  [👥 Cohort _TAL1_ N = 8],
+  [👥 Cohort _TAL1_ --- n = 12],
   [
     #set align(center + horizon)
     #set text(16pt)
@@ -1049,18 +1049,18 @@
           [*mécanisme*],
 					[*interpretation*],
 
-					[ACHITE],	text(fill: yellow)[12],	[t(1;17) _TAL1::RPTOR_], [✅],
-					[BECERRA],	text(fill: yellow)[12],	[_TCR::LMO2_], [❓],
-					[CAMARA], text(fill: green)[20], [insertion dans _MYB_], [❓],
+					[ACHITE],	text(fill: yellow)[12],	[TAL1::RPTOR t(1;17)], [✅],
+					[BECERRA],	text(fill: yellow)[12],	[TCR::LMO2], [❓],
+					[CAMARA], text(fill: green)[20], [insertion intronique _MYB_], [❓],
 					[COLLE], text(fill: red)[7],	[], [],
-					[DAHAN], text(fill: green)[13],	[duplication intronique _TAL1_ (ex2-3)], [❓],
-					[DOUYERE],	text(fill: yellow)[22 pas mrd], [(_BCL11B::TLX3_)], [❓],
+					[DAHAN], text(fill: yellow)[13],	[duplication intronique en tandem _TAL1_ (ex2-3)], [❓],
+					[DOUYERE],	text(fill: yellow)[22 pas mrd], [(BCL11B::TLX3)], [❓],
 					[FALLE],	[_en cours_],	[], [],
 					[GILLOUX],	text(fill: yellow)[15 pas mrd],	[pas d'altération locus _TAL1_], [❓],
-					[HENAUX],	text(fill: yellow)[12], [ins 9 nt ex3-4], [❓],
-					[JEANSELME],	[_en cours_], [], [],
-					[ROBIN],	text(fill: yellow)[14],	[_LMO2::RAG1_ (del 11q)], [❓],
-					[SCHOLZ],	text(fill: yellow)[16], [], [],
+					[HENAUX],	text(fill: yellow)[12], [insertion intronique de 9nt dans _TAL1_ (ex3-4)], [❓],
+					[JEANSELME], text(fill: yellow)[14], [duplication inversée intronique de 19nt dans _DAB1_], [❓],
+					[ROBIN],	text(fill: yellow)[14],	[LMO2::RAG1 del 11q], [❓],
+					[SCHOLZ],	text(fill: yellow)[18 pas mrd], [Probable dup inversée chr2:26,269,840-32,135,324], [❓],
         )
       ],
       [],
@@ -1069,7 +1069,7 @@
 )
 
 #simple_dia(
-  [🧬 Interesting results: _TAL1_],
+  [🧬 Interesting results --- _TAL1_],
   [
     #align(
       center + horizon,
@@ -1115,7 +1115,7 @@
 // )
 
 #simple_dia(
-  [👥 Cohort _TLX1_ N = 12],
+  [👥 Cohort _TLX1_ --- n = 8],
   [
     #set align(center + horizon)
     #set text(16pt)
@@ -1137,7 +1137,7 @@
 					[CHAMPION],	text(fill: green)[32],	[inv10], [✅],
 					[LEVASSEUR], text(fill: green)[20], [inv10 (avec 5’ UTR ralongé)], [✅],
 					[PARACHINI], text(fill: green)[17],	[t(10;14)], [✅],
-					[PASSARD], text(fill: green)[18],	[chromotripsis du 10], [✅],
+					[PASSARD], text(fill: green)[18],	[chromothripsis du 10], [✅],
 					[PAYSAN],	[_en cours_], [], [],
 					[RIVOALEN],	text(fill: green)[19],	[inv10], [✅],
 					[SALICETTO],	text(fill: yellow)[12 pas mrd],	[inv10], [✅],
@@ -1150,7 +1150,7 @@
 
 
 #simple_dia(
-  [🧬 Interesting results: TLX1],
+  [🧬 Interesting results --- _TLX1_],
   [
     #align(
       center + horizon,
@@ -1190,7 +1190,7 @@
 )
 
 #simple_dia(
-  [🗣️ Discussion],
+  [🗣️ Discussion --- Poisson distribution & rare variants strategy]  ,
   double_boxes(auto, auto, align(center, image("./Images/freq_TRD_partners.png")), [])
 )