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High Resolution Melting Analysis: A Rapid and Accurate Method to Detect CALR Mutations
Background The recent discovery of CALR mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients without JAK2/MPL mutations has emerged as a relevant finding for the molecu
NIAID Data Ecosystem40
ena-DATASET-MUG-02-12-2021-20:10:41:895-344 - samples
Targeted next-generation sequencing (NGS) of 93 frequently mutated genes in breast cancer using the QIAseq Human Breast Cancer Targeted Panel (QIAGEN), which uses digital sequencing by incorporating u
NIAID Data Ecosystem30
A Highly Sensitive Quantitative Real-Time PCR Assay for Determination of Mutant JAK2 Exon 12 Allele Burden
Mutations in the Janus kinase 2 (JAK2) gene have become an important identifier for the Philadelphia-chromosome negative chronic myeloproliferative neoplasms. In contrast to the JAK2V617F mutation, th
Figshare2016-01-18 更新10
Bioinformatic Challanges in clinical diagnostic application of targeted next generation sequencing. Experience from Pheochromocytoma.. Bioinformatic Challanges in clinical diagnostic application of targeted next generation sequencing. Experience from Pheochromocytoma.
Background: Recent studies have demonstrated equal quality of targeted next generation sequencing (NGS) compared to Sanger Sequencing. Whereas these novel sequencing processes have a validated robust
NIAID Data Ecosystem30
Homo sapiens Targeted NGS
Targeted NGS for Clinical Diagnosis of Mendelian Diseases
DataCite Commons2020-10-10 更新20
