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Related Concept Videos

RNA-seq03:21

RNA-seq

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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
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Next-generation Sequencing03:00

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Sanger Sequencing01:57

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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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Ribosome Profiling02:24

Ribosome Profiling

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Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
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Genomics02:02

Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Maxam-Gilbert Sequencing01:05

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In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
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Updated: Jan 8, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Solving Riddles Through Sequencing (SIRIUS): unlocking hematologic diagnoses by whole genome and transcriptome

Marietta Truger1, Manja Meggendorfer1, Wencke Walter1

  • 1MLL Munich Leukemia Laboratory, Munich, Germany.

Leukemia
|December 19, 2025
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Summary
This summary is machine-generated.

Whole genome sequencing (WGS) and whole transcriptome sequencing (WTS) improve leukemia and lymphoma diagnosis. These advanced genomic techniques offer valuable insights in 25% of challenging hematological neoplasm cases.

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Area of Science:

  • Hematology
  • Genomics
  • Oncology

Background:

  • Hematological neoplasms like leukemias and lymphomas present diagnostic challenges.
  • Current gold standard diagnostics may not always provide conclusive identification of these cancers.
  • Advancements in genetic analysis are crucial for improving diagnostic accuracy.

Purpose of the Study:

  • To evaluate the utility of whole genome sequencing (WGS) and whole transcriptome sequencing (WTS) in diagnosing hematological neoplasms.
  • To assess the potential of WGS and WTS to bridge diagnostic gaps left by conventional methods.
  • To explore the role of advanced sequencing in identifying rare genetic alterations and gene expression patterns.

Main Methods:

  • The SIRIUS study (NCT05046444) analyzed 106 patients with unclear diagnoses after standard testing.
  • Whole genome sequencing (WGS) and whole transcriptome sequencing (WTS) were performed on patient samples.
  • Analysis focused on identifying somatic alterations, including single-nucleotide variants (SNVs), copy number variations (CNVs), and gene expression.
  • Comparison of WGS/WTS findings with results from gold standard diagnostic methods.

Main Results:

  • WGS and WTS detected a wider spectrum of somatic alterations than conventional diagnostics.
  • Rare SNVs, small CNVs, and aberrant gene expression patterns were identified.
  • Additional diagnostic insights were provided by WGS and WTS in 25% of cases studied.
  • These advanced techniques enhanced the identification of hematological neoplasms.

Conclusions:

  • Integrating WGS and WTS into the diagnostic workflow for hematological neoplasms is recommended.
  • These genomic approaches improve diagnostic accuracy and aid in prognostic assessment.
  • WGS and WTS support the development of personalized treatment strategies for patients.
  • The study highlights the financial sustainability and ethical soundness of adopting advanced sequencing methods.