Table 1.

Major mutational profiling studies in bone marrow failure

Reference	Diagnosis	No.	WES	tNGS	GP
6	MDS	903*	204	699	61
7	MDS	944	—	944	104
23	MDS, MDS/MPN, CMML	738	—	738	111
24	MDS and sAML	158	8	150	94
8	MDS	439	—	439	111
22	AA	491	52	439	106
25	PNH	48	12	36	61

CMML, chronic myelomonocytic leukemia; GP, gene panel; MPN, myeloproliferative neoplasm; sAML, secondary acute myeloid leukemia; tNGS, targeted next-generation sequencing; WES, whole-exome sequencing.

^*Study also leveraged previously published genotyping data to comprise a set of 2,250 MDS and sAML patients for analyzing the impact of driver mutations on disease progression and outcomes.