BOL: Related items

Roderic Guigó Lab

Mon, 01 Sep 2014 17:13:00 -0500

Research in our group focuses on the investigation of the signals involved in gene specification in genomic sequences (promoter elements, splice sites, translation initiation sites, etc…). We are interested both in the mechanism of their recognition and processing, and in their evolution. In addition, but related to this basic component of our research, our group is also involved in the development of software for gene prediction and annotation in genomic sequences. Our group also actively participates in the analysis of many eukaryotic genomes and it in involved in the NIH-funded ENCODE project. Furthermore we are members of two large cancer-studies consortia (chronic lymphocytic leukemia "CLL" and Breast Cancer -Hospital del Mar/CRG/Roche-).

More at http://big.crg.cat/computational_biology_of_rna_processing

MAKER

Jitendra Narayan — Sun, 07 Feb 2016 15:59:24 -0600

MAKER is a portable and easily configurable genome annotation pipeline.Its purpose is to allow smaller eukaryotic and prokaryotic genome projects to independently annotate their genomes and to create genome databases. MAKER identifies repeats, aligns ESTs and proteins to a genome, produces ab-initio gene predictions and automatically synthesizes these data into gene annotations having evidence-based quality values.

More at http://www.yandell-lab.org/software/maker.html

Address of the bookmark: http://www.yandell-lab.org/software/maker.html

COSMIC

Jit — Sat, 01 Oct 2016 15:04:10 -0500

The accurate description and annotation of structural variants can be complex. This is due to the different resolution that variants are reported from traditional cytogenetic coordinates down to the actual base pair positions. Furthermore, multiple rearrangements in a single area of the genome can make cataloguing and interpreting their effects challenging.

The Rearrangement Overview page describes the one or more breakpoints which make up a structural variant. A breakpoint is defined as a region or point where the sample sequence has altered from the reference sequence. Minimum interpretation is made of this data. One variant event can consist of one or multiple breakpoints. The Syntax (shown above the table) gives a detailed description of the variant and its location (e.g. chr11:g.36585230_76606619del, a deletion of roughly 40Mb on chromosome 11). Syntax is based on HGVS mutation nomenclature recommendations [http://www.hgvs.org/rec.html].

http://cancer.sanger.ac.uk/cosmic/help/rearrangement/overview

Address of the bookmark: http://cancer.sanger.ac.uk/cosmic/help/rearrangement/overview

Cancer Dependency Map

Jit — Thu, 13 Feb 2020 04:38:47 -0600

The consequences of alterations in the DNA of cancer cells and subsequent vulnerabilities are not fully understood. This project aims to assign a dependency to every cancer cell in a patient which could be exploited to develop new therapies. This knowledge is foundational for precision cancer medicine.

Address of the bookmark: https://depmap.sanger.ac.uk/

Precision Medicine

Rahul Agarwal — Sat, 24 Aug 2013 15:47:03 -0500

Coupling established clinical–pathological indexes with state-of-the-art molecular profiling to create diagnostic, prognostic, and therapeutic strategies precisely tailored to each patient's requirements — hence the term “Precision medicine”

Source:http://www.nejm.org/doi/full/10.1056/NEJMp1114866

Another video on precision medicine:

http://www.youtube.com/watch?v=Pi8W0yOXnzE

Precision Medicine basically intergrates bioinformatics, genomics , genetics, molecular biology and nanotechnology to deliver precise cure/diagnotics to a specific patient.

Examples:

The drug imatinib (Gleevec) designed to inhibit an altered enzyme produced by a fused version of two genes found in chronic myelogenous leukemia.
The breast cancer drug trastuzumab (Herceptin) works only for women whose tumors have a particular genetic profile called HER-2 positive.

E.g. source :

http://www.bionews-tx.com/news/2013/08/15/how-the-impact-of-cancer-genomics-on-precision-medicine-is-revolutionizing-cancer-treatment/

Address of the bookmark: http://www.cbsnews.com/video/watch/?id=50149783n

Prof. Chandrasekhar Kanduri Laboratory

Fri, 24 Jun 2016 16:59:43 -0500

Our lab has been interested in understanding how long noncoding RNAs control tumor initiation and progression, in addition to use them as potential biomarkers in diagnosis and therapy. We have been using neuroblastoma, a childhood cancer, as a model system to understand the functional role of long noncoding RNAs in cancer development and progression. By using new RNA sequencing technology on neuroblastoma tumors from a large group of Swedish children including both high-risk and low-risk neuroblastomas (108), we have identified several long noncoding RNAs that could have potential role in diagnosis and therapy. We are currently exploring the functional role of these differentially expressed long noncoding RNA in nuroblastoma progression and development.

Artificial intelligence is more accurate than doctors in diagnosing breast cancer

BioStar — Wed, 01 Jan 2020 22:12:34 -0600

Artificial intelligence is more accurate than doctors in diagnosing breast cancer from mammograms, a study in the journal Nature suggests.

An international team, including researchers from Google Health and Imperial College London, designed and trained a computer model on X-ray images from nearly 29,000 women.

The algorithm outperformed six radiologists in reading mammograms.

AI was still as good as two doctors working together.

Unlike humans, AI is tireless. Experts say it could improve detection. Read More: https://www.bbc.com/news/health-50857759

InfoGenomeR: Integrative reconstruction of cancer genome karyotypes

Jit — Wed, 05 May 2021 01:02:18 -0500

InfoGenomeR is the Integrative Framework for Genome Reconstruction that uses a breakpoint graph to model the connectivity among genomic segments at the genome-wide scale. InfoGenomeR integrates cancer purity and ploidy, total CNAs, allele-specific CNAs, and haplotype information to identify the optimal breakpoint graph representing cancer genomes.

More at https://www.nature.com/articles/s41467-021-22671-6

Address of the bookmark: https://github.com/dmcblab/InfoGenomeR

Papenfuss Lab

Sun, 14 Jul 2013 12:22:28 -0500

The human genome project and similar projects in disease-causing organisms such as Plasmodium falciparum, which causes malaria in humans, have provided new tools for discovery in biology and have accelerated the development of understanding in human disease.

Research Area:
Analysis of Next Generation sequence data in cancer
Methods for analysis of structural variation in cancer genomes
Next Generation sequencing in malaria
Computational comparative genomics
Sensitive genomic sequence search techniques using hidden Markov models
Tasmanian devil facial tumour disease

Link @ http://www.wehi.edu.au/faculty_members/dr_tony_papenfuss

The Ontario Institute for Cancer Research (OICR) Genomics Lab , Toronto, Canada.

Mon, 12 Aug 2013 01:43:13 -0500

The Human Genome Project led to the development of a wide array of technologies to screen the genome and its products (genes, proteins, metabolites) and molecules that interact with these products (chemicals, RNAi). The existence of these tools resulted in the creation of facilities that use robotics and informatics to generate high-throughput screens of DNA, RNA, protein, tissue, chemicals and other substances.

The genomics platform uses cancer genome sequencing and other high-throughput techniques to identify genes critical to the development of cancer and anomalies in the genomic profile of the tumours.

For more info visit : http://oicr.on.ca/