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- 200 AML cases from TCGA (LAML dataset). Available data types include gene expression , DNA-methylation, CNV, mutation, etc. TCGA data moved to [[https://gdc-portal.nci.nih.gov/|GDC]] but DNA-methylation is not there. Instead, it can be retrieved from GDC Legacy Archive or the original [[https://tcga-data.nci.nih.gov/docs/publications/laml_2012/|paper]]. | - 200 AML cases from TCGA (LAML dataset). Available data types include gene expression , DNA-methylation, CNV, mutation, etc. TCGA data moved to [[https://gdc-portal.nci.nih.gov/|GDC]] but DNA-methylation is not there. Instead, it can be retrieved from GDC Legacy Archive or the original [[https://tcga-data.nci.nih.gov/docs/publications/laml_2012/|paper]]. |
- German [[https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE37642|AMLCG]] 1999 provides microarray data of 562 AML samples. | - German [[https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE37642|AMLCG]] 1999 provides microarray data of 562 AML samples. |
- Papaemmanuil, Elli, et al. "Genomic classification and prognosis in acute myeloid leukemia." [[http://www.nejm.org/doi/full/10.1056/NEJMoa1516192#t=article|NEJM]] 374.23 (2016): 2209-2221. \\ The mutations of 111 genes in over **1,500 AML** cases are reported. The authors used this information to classify cases into groups and showed these groups have different prognosis. I.,e., [[https://www.mskcc.org/sites/default/files/node/2246/documents/discrete-cpe.pdf|concordance]] (probability estimates) improves from 64% using only the European LeukemiaNet criteria to 71%. Using the alternative allele frequency, they estimated the time of occurrence for the driver mutations. The data are available through the links in the corresponding [[http://www.nature.com/ng/journal/v49/n3/full/ng.3756.html|Nature]] paper [[[:ng.3756.pdf?media=ng.3756.pdf|pdf]]]. Information on downloading these data is contained in the readme file found in genetwork:~/proj/genetwork/data/AML/gerstung/readme.txt. In particular, we have access to [[https://www.ebi.ac.uk/ega/studies/EGAS00001000275|EGAS00001000275]] through [[https://ega-archive.org/|EGA]] Archives. See [[:habils_lab_notebook|Habil's]] note on 2017/09/05 for more detail. Any member of Oncinfo Lab who touches (analyzes or views) these data from Sanger Institute must read and abide to the [[:sanger_data_agreement_2017-08-09.pdf?media=sanger_data_agreement_2017-08-09.pdf|agreement]]. | - Papaemmanuil, Elli, et al. "Genomic classification and prognosis in acute myeloid leukemia." [[http://www.nejm.org/doi/full/10.1056/NEJMoa1516192#t=article|NEJM]] 374.23 (2016): 2209-2221. \\ The mutations of 111 genes in over **1,500 AML** cases are reported. The authors used this information to classify cases into groups and showed these groups have different prognosis. I.,e., [[https://www.mskcc.org/sites/default/files/node/2246/documents/discrete-cpe.pdf|concordance]] (probability estimates) improves from 64% using only the European LeukemiaNet criteria to 71%. Using the alternative allele frequency, they estimated the time of occurrence for the driver mutations. The data are available through the links in the corresponding [[http://www.nature.com/ng/journal/v49/n3/full/ng.3756.html|Nature]] paper [[:ng.3756.pdf?media=ng.3756.pdf|pdf]]]. Information on downloading these data is contained in the readme file found in genetwork:~/proj/genetwork/data/AML/gerstung/readme.txt. In particular, we have access to [[https://www.ebi.ac.uk/ega/studies/EGAS00001000275|EGAS00001000275]] through [[https://ega-archive.org/|EGA]] Archives. See [[:habils_lab_notebook|Habil's]] note on 2017/09/05 for more detail. Any member of Oncinfo Lab who touches (analyzes or views) these data from Sanger Institute must read and abide to the [[:sanger_data_agreement_2017-08-09.pdf?media=sanger_data_agreement_2017-08-09.pdf|agreement]]. |
- RNA, DNA methylation, whole genome, etc. data of 960 (pediatric?) AML cases are available from [[https://ocg.cancer.gov/programs/target/acute-myeloid-leukemia|TARGET]] AML study. | - RNA, DNA methylation, whole genome, etc. data of 960 (pediatric?) AML cases are available from [[https://ocg.cancer.gov/programs/target/acute-myeloid-leukemia|TARGET]] AML study. |
- AML-NK gene expression data (RNA-Seq) from three datasets (TCGA, Leucegene, and PMP/BCCA). [[https://docs.google.com/a/princeton.edu/document/d/1tB75BDAoG6-ggkoKzxF_f8anTnaP0lOAZ4MG-wEWCyk/edit?usp=sharing|Full description]]. | - AML-NK gene expression data (RNA-Seq) from three datasets (TCGA, Leucegene, and PMP/BCCA). [[https://docs.google.com/a/princeton.edu/document/d/1tB75BDAoG6-ggkoKzxF_f8anTnaP0lOAZ4MG-wEWCyk/edit?usp=sharing|Full description]]. |
- Genomic Data Commons ([[https://portal.gdc.cancer.gov/repository|GDC]]), which contains TCGA data and more. | - Genomic Data Commons ([[https://portal.gdc.cancer.gov/repository|GDC]]), which contains TCGA data and more. |
- [[https://amp.pharm.mssm.edu/archs4/|ARCHS4]], which was developed at the Icahn School of Medicine at Mount Sinai, and provides tools to download and analyze RNA-Seq data including single-cell gene expression. | - [[https://amp.pharm.mssm.edu/archs4/|ARCHS4]], which was developed at the Icahn School of Medicine at Mount Sinai, and provides tools to download and analyze RNA-Seq data including single-cell gene expression. |
| - The [[https://www.nature.com/articles/s41586-018-0623-z#Sec38|BEAT]] ALM dataset of ~300 cases including gene expression, survival, ELN17, etc. |
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===== Related work ===== | ===== Related work ===== |
- Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma, [[http://www.cell.com/cell/abstract/S0092-8674(17)30639-6?innerTabgraphical_S0092867417306396|Cell]], 2017 [{{:ally-copmprehensive_and_integrative_genomic_char_of_hcc-cell-2017.pdf|pdf}} ]. \\ TCGA's HCC data and subtyping using DNA copy number, DNA methylation, mRNA expression, miRNA expression and RPPA (protein expression). Links to the MDACC dataset with 100 HCC samples. | - Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma, [[http://www.cell.com/cell/abstract/S0092-8674(17)30639-6?innerTabgraphical_S0092867417306396|Cell]], 2017 [{{:ally-copmprehensive_and_integrative_genomic_char_of_hcc-cell-2017.pdf|pdf}} ]. \\ TCGA's HCC data and subtyping using DNA copy number, DNA methylation, mRNA expression, miRNA expression and RPPA (protein expression). Links to the MDACC dataset with 100 HCC samples. |
- Guillamot, Maria, Luisa Cimmino, and Iannis Aifantis. "The impact of DNA methylation in hematopoietic malignancies." [[http://www.cell.com/trends/cancer/pdf/S2405-8033(15)00089-8.pdf|Trends in cancer]] 2.2 (2016): 70-83. \\ Reviews and references DNA methylation studies and datasets on AML. E.g., [[http://www.sciencedirect.com/science/article/pii/S1535610809004206|Figueroa]] et al. used DNA methylation for classification of 344 AML cases. [[http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1002781|Akalin]] et al. related DNA methylation patterns with mutations in 5 AML cases. "The methylation status of specific genes can predict the future survival of AML patients, suggesting that DNA methylation is a biomarker for clinical outcome" see e.g., Figueroa et al, [[http://www.bloodjournal.org/content/bloodjournal/113/6/1315.full.pdf?sso-checked=true|Jiang]] 2009 (studied MDS to AML progression in 184 cases), and [[http://www.bloodjournal.org/content/115/3/636.long?sso-checked=true|Bullinger]] 2010 (analyzed 92 genomic regions in 182 patients). | - Guillamot, Maria, Luisa Cimmino, and Iannis Aifantis. "The impact of DNA methylation in hematopoietic malignancies." [[http://www.cell.com/trends/cancer/pdf/S2405-8033(15)00089-8.pdf|Trends in cancer]] 2.2 (2016): 70-83. \\ Reviews and references DNA methylation studies and datasets on AML. E.g., [[http://www.sciencedirect.com/science/article/pii/S1535610809004206|Figueroa]] et al. used DNA methylation for classification of 344 AML cases. [[http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1002781|Akalin]] et al. related DNA methylation patterns with mutations in 5 AML cases. "The methylation status of specific genes can predict the future survival of AML patients, suggesting that DNA methylation is a biomarker for clinical outcome" see e.g., Figueroa et al, [[http://www.bloodjournal.org/content/bloodjournal/113/6/1315.full.pdf?sso-checked=true|Jiang]] 2009 (studied MDS to AML progression in 184 cases), and [[http://www.bloodjournal.org/content/115/3/636.long?sso-checked=true|Bullinger]] 2010 (analyzed 92 genomic regions in 182 patients). |
| - John [[https://www.youtube.com/watch?v=Vyhq7GZFnes|Quackenbush's]] talk entitled: "Using Networks to Understand the Genotype-Phenotype Connection" \\ |
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\\ **Related software** | \\ **Related software** |