Most people who have a balanced translocation have the right amount of chromosome material but it has been rearranged in some way. This may happen if two chromosomes swap pieces (a reciprocal translocation). In other cases two whole chromosomes may become stuck together (a Robertsonian translocation). This page describes what happens when someone has a reciprocal translocation.

Reciprocal chromosomal translocations occur following double-strand breaks (DSBs) in DNA when a section of one chromosome is exchanged with that of another, non-homologous chromosome. These exchanges may produce a dysfunctional fusion gene that disrupts cell growth and survival pathways, such as the translocations seen in leukemia and childhood sarcomas.

Chromosomal translocations have been well studied in cancer cell lines which are associated with two types of cancer, acute myeloid leukemia and Ewing's sarcoma, but determining how they contribute to cancer development is complicated by additional mutations and altered gene expression profiles in these cultured cells. Now, Juan Carlos Ramirez, head of the Viral Vector Facility at the Fundacion Centro Nacional de Investigaciones Cardiovasculares (CNIC) and his colleagues Raul Torres at CNIC and Sandra Rodriguez-Peralez at the Spanish National Cancer Center (CNIO) in Madrid, Spain have used a new genome editing tool, CRISPR-Cas9, to induce chromosomal translocations for the first time in a human cell line and in primary cells. The study's authors conclude by stating that the use of this technology will allow for the clarification of how and why chromosomal translocation occurs, which without doubt will allow new anti-cancer therapeutic strategies to be tackled.

Using RNA-Guided Endonuclease (RGEN) technology or CRISPR/Cas9 genome engineering technology, CNIO and CNIC researchers have shown that it is possible to obtain such chromosomal translocations. The CRISPR-Cas9 system is extremely simple to introduce a cut at the desired locus, easier to design, and cheaper than many other systems. Using the CRISPR-Cas9 system, Ramirez and his colleagues reproduced the translocations observed in Ewing’s Sarcoma (ES) and Acute Myeloid Leukemia (AML) patient cell lines in HEK293 cells and also generated the ES translocation in human mesenchymal stem cells and the AML translocation in umbilical cord blood cells.

By focusing on chromosomal translocation without the confounding characteristics of established cell lines, these new cells lines should help answer the fundamental question of what causes a cell to become cancerous. Ramirez and his team now look forward to modeling other chromosome translocations in a variety of cell types.

Reference:

http://en.wikipedia.org/wiki/Chromosomal_translocation

http://www.nature.com/ncomms/2014/140603/ncomms4964/abs/ncomms4964.html

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autokeras v1.0.1: Implements an interface to AutoKeras, an open source software library for automated machine learning. See README for an example.

MTPS v0.1.9: Implements functions to predict simultaneous multiple outcomes based on revised stacking algorithms as described in Xing et al. (2019). See the vignette to get started.

quanteda.textmodels v0.9.1: Implements methods for scaling models and classifiers based on sparse matrix objects representing textual data. It includes implementations of the Laver et al. (2003) wordscores model, the Perry & Benoit’s (2017) class affinity scaling model, and the Slapin & Proksch (2008) wordfish model. See the vignette to get started.

SeqDetect v1.0.7: Implements the automaton model found in Krleža, Vrdoljak & Brčić (2019) to detect and process sequences. See the vignette for examples and theory.

studyStrap v1.0.0: Implements multi-Study Learning algorithms such as Merging, Study-Specific Ensembling (Trained-on-Observed-Studies Ensemble), the Study Strap, and the Covariate-Matched Study Strap. and offers over 20 similarity measures. See Kishida, et al. (2019) for background and the vignette for how to use the package.

Address of the bookmark: https://www.bioconductor.org/packages/devel/bioc/vignettes/QuasR/inst/doc/QuasR.html

Address of the bookmark: https://practical-stats-med-r.netlify.app/

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Author: David Porubsky

Address of the bookmark: https://github.com/daewoooo/SVbyEye

BioRuby paper link : http://bioinformatics.oxfordjournals.org/content/26/20/2617.abstract

Address of the bookmark: http://www.codeschool.com/paths/ruby

Address of the bookmark: https://github.com/mattharrison/Tiny-Python-3.6-Notebook/blob/master/python.rst

Address of the bookmark: https://github.com/iansealy/coursera-assembly

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2. How to run a short read assembler on Illumina data
3. How to run a long read assembler on Pacific Biosciences or Oxford Nanopore data
4. How to improve the accuracy of a long read assembly using short reads
5. How to assess the quality of an assembly

https://bioinformaticsdotca.github.io/high-throughput_biology_2017

Address of the bookmark: https://bioinformaticsdotca.github.io/high-throughput_biology_2017_module6_lab