Variants from a subset of genes from WES of adult AML patient samples

The aim if this study was to identify variants in a specific list of genes in samples from adult AML patients. The gene list includes DNA repair and mitochondrial respiratory chain genes.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 2 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001008700	Dataset comprises one vcf file containing variants from a list of genes (DNA repair and metabolism associated genes) subset from WES of an adult AML cohort. The cohort contains 145 patient samples. WES was performed using Illumina platform.		1

Publications	Citations
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia. Maung KZY, Leo PJ, Bassal M, Casolari DA, Gray JX, Bray SC, Pederson S, Singhal D, Samaraweera SE, Nguyen T, Cildir G, Marshall M, Ewing A, Duncan EL, Brown MA, Saal R, Tergaonkar V, To LB, Marlton P, Gill D, Lewis I, Deans AJ, Brown AL, D'Andrea RJ, Gonda TJ. Blood Cancer J 8: 2018 50	11
Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia. Bassal MA, Samaraweera SE, Lim K, Benard BA, Bailey S, Kaur S, Leo P, Toubia J, Thompson-Peach C, Nguyen T, Maung KZY, Casolari DA, Iarossi DG, Pagani IS, Powell J, Pitson S, Natera S, Roessner U, Lewis ID, Brown AL, Tenen DG, Robinson N, Ross DM, Majeti R, Gonda TJ, Thomas D, D'Andrea RJ. Nat Commun 13: 2022 2614	9

Publications

Citations

Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.
Maung KZY, Leo PJ, Bassal M, Casolari DA, Gray JX, Bray SC, Pederson S, Singhal D, Samaraweera SE, Nguyen T, Cildir G, Marshall M, Ewing A, Duncan EL, Brown MA, Saal R, Tergaonkar V, To LB, Marlton P, Gill D, Lewis I, Deans AJ, Brown AL, D'Andrea RJ, Gonda TJ. Blood Cancer J 8: 2018 50

Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia.
Bassal MA, Samaraweera SE, Lim K, Benard BA, Bailey S, Kaur S, Leo P, Toubia J, Thompson-Peach C, Nguyen T, Maung KZY, Casolari DA, Iarossi DG, Pagani IS, Powell J, Pitson S, Natera S, Roessner U, Lewis ID, Brown AL, Tenen DG, Robinson N, Ross DM, Majeti R, Gonda TJ, Thomas D, D'Andrea RJ. Nat Commun 13: 2022 2614