ScanITD: Detecting internal tandem duplication with robust variant allele frequency estimation
نویسندگان
چکیده
منابع مشابه
ASAFE: ancestry-specific allele frequency estimation
UNLABELLED In a genome-wide association study (GWAS) of an admixed population, such as Hispanic Americans, ancestry-specific allele frequencies can inform the design of a replication GWAS. We derive an EM algorithm to estimate ancestry-specific allele frequencies for a bi-allelic marker given genotypes and local ancestries on a 3-way admixed population, when the phase of each admixed individual...
متن کاملfms like tyrosine kinase3- internal tandem duplication (flt3-itd) in acute myeloid leukemia, mutation frequency and its relation with complete remission, 2007- 2008
introduction: about half of acute myeloid leukemia (aml) adult patients have no cytogenetic abnormalities as a main determinant of complete remission after treatment, so other markers are needed such as flt3-itd (fms-like tyrosine kinase3-internal tandem duplication) mutations in patients with normal karyotype. the objective of this study was assessing the frequency of flt3-itd mutations and it...
متن کاملImmunophenotypic findings in acute myeloid leukemia with FLT3 internal tandem duplication.
BACKGROUND AND OBJECTIVES The biological characteristics and the prognostic significance of the internal tandem duplication of the FLT3 (FLT3/ITD) were investigated in a series of de novo acute myeloid leukemia (AML) patients. One hundred and fifty-six adult patients with AML were included in the study. FLT3/ITD was detected in 41 (26%) patients (FLT3/ITD(+)). DESIGN AND METHODS The main diff...
متن کاملSize of FLT3 internal tandem duplication has prognostic significance in patients with acute myeloid leukemia.
FLT3 internal tandem duplications (FLT3/ITDs) in the juxtamembrane domain are found in approximately 25% of acute myeloid leukemia (AML) patients, ranging in size from 3 to hundreds of nucleotides. We examined whether the sizes of FLT3/ITDs were associated with clinical outcomes in 151 AML patients enrolled in Southwest Oncology Group studies: S9333 and S9500. FLT3/ITDs were identified in 32% o...
متن کاملSorafenib in Relapsed AML With FMS-Like Receptor Tyrosine Kinase-3 Internal Tandem Duplication Mutation.
Old age (≤65 years), relapsed or refractory disease, and the presence of FMS-like receptor tyrosine kinase-3 (FLT3) internal tandem duplication (ITD) mutation are poor prognostic factors in acute myeloid leukemia (AML). FLT3 inhibitors such as sorafenib have been shown to have a potential role in treating relapsed or refractory AML with FLT3 mutations. In the present report, the use of sorafeni...
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ژورنال
عنوان ژورنال: GigaScience
سال: 2020
ISSN: 2047-217X
DOI: 10.1093/gigascience/giaa089