Found: 23
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Loss of heterozygosity: what is it good for?
- Published in:
- BMC Medical Genomics, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s12920-015-0123-z
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- Article
Inferring copy number and genotype in tumour exome data.
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- BMC Genomics, 2014, v. 15, n. 1, p. 732, doi. 10.1186/1471-2164-15-732
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- Article
Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 9, p. 1, doi. 10.1371/journal.pgen.1002894
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- Article
Persistence of UBTF tandem duplications in remission in acute myeloid leukaemia.
- Published in:
- EJHaem, 2023, v. 4, n. 4, p. 1105, doi. 10.1002/jha2.808
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- Article
Publisher Correction: CNspector: a web-based tool for visualisation and clinical diagnosis of copy number variation from next generation sequencing.
- Published in:
- 2020
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- Correction Notice
Bioinformatics Pipelines for Targeted Resequencing and Whole-Exome Sequencing of Human and Mouse Genomes: A Virtual Appliance Approach for Instant Deployment.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0095217
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- Article
MicroRNA Genes and Their Target 39-Untranslated Regions Are Infrequently Somatically Mutated in Ovarian Cancers.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035805
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- Article
RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary.
- Published in:
- Journal of Pathology, 2013, v. 229, n. 3, p. 469, doi. 10.1002/path.4134
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- Article
Variant acute promyelocytic leukaemia with novel NAB2::RARA fusion shows clinical all‐trans retinoic acid and arsenic trioxide sensitivity.
- Published in:
- British Journal of Haematology, 2023, v. 202, n. 4, p. 893, doi. 10.1111/bjh.18907
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- Article
Methyl‐CpG binding domain 4, DNA glycosylase (MBD4)‐associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype.
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- British Journal of Haematology, 2022, v. 198, n. 1, p. 196, doi. 10.1111/bjh.18178
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- Article
Inotuzumab ozogamicin resistance associated with a novel CD22 truncating mutation in a case of B‐acute lymphoblastic leukaemia.
- Published in:
- British Journal of Haematology, 2020, v. 191, n. 1, p. 123, doi. 10.1111/bjh.16949
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- Article
A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.
- Published in:
- British Journal of Haematology, 2020, v. 190, n. 5, p. e297, doi. 10.1111/bjh.16819
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- Article
Detection of clinically relevant early genomic lesions in B‐cell malignancies from circulating tumour DNA using a single hybridisation‐based next generation sequencing assay.
- Published in:
- British Journal of Haematology, 2018, v. 183, n. 1, p. 146, doi. 10.1111/bjh.14919
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- Publication type:
- Article
Multiplexed transcriptome analysis to detect ALK, ROS1 and RET rearrangements in lung cancer.
- Published in:
- Scientific Reports, 2017, p. 42259, doi. 10.1038/srep42259
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- Article
An activating Pik3ca mutation coupled with Pten loss is sufficient to initiate ovarian tumorigenesis in mice.
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- Journal of Clinical Investigation, 2012, v. 122, n. 2, p. 553, doi. 10.1172/JCI59309
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- Publication type:
- Article
JAFFAL: detecting fusion genes with long-read transcriptome sequencing.
- Published in:
- Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-021-02588-5
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- Publication type:
- Article
JAFFAL: detecting fusion genes with long-read transcriptome sequencing.
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- Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-021-02588-5
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- Publication type:
- Article
Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.
- Published in:
- Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0210-y
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- Article
A simple consensus approach improves somatic mutation prediction accuracy.
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- Genome Medicine, 2013, v. 5, n. 9, p. 1, doi. 10.1186/gm494
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- Article
Analysis of the Mitogen-activated protein kinase kinase 4 (MAP2K4) tumor suppressor gene in ovarian cancer.
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- BMC Cancer, 2011, v. 11, n. 1, p. 173, doi. 10.1186/1471-2407-11-173
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- Article
CONTRA: copy number analysis for targeted resequencing.
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- Bioinformatics, 2012, v. 28, n. 10, p. 1307, doi. 10.1093/bioinformatics/bts146
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- Article
The molecular origin and taxonomy of mucinous ovarian carcinoma.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-11862-x
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- Publication type:
- Article
Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 95, doi. 10.1002/humu.21625
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- Article