BOL: Related items

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

Genome Annotation

Sun, 25 Aug 2013 10:53:01 -0500

Dr. Rob Edwards describes some of the problems, challenges, and approches in genome annotation, with a particular emphasis on how the Fellowship for the Interpretation of Genomes (FIG) developed subsystems using the SEED database available at http://www.theseed.org/

IMPUTE2

Jit — Thu, 27 Oct 2016 11:21:44 -0500

IMPUTE2 is a computer program for phasing observed genotypes and imputing missing genotypes. Most people use just a couple of the program's basic functions, but we have also built up a collection of specialized and powerful options. If you are new to IMPUTE2, or indeed to phasing and imputation in general, we suggest that you start by learning the basics.

You should begin by downloading the program from here. You will need to choose the link that matches your computing platform and then follow the instructions for opening the download package.

Once you have done this, you will be ready to try some example analyses on the test data that are provided with the download. The section on Examples shows how to use the most common IMPUTE2 functions. We suggest that you work through these examples and try to understand what the elements of each command are doing. If you don't understand something or would like to know if the program can perform a function that isn't listed, you can read our FAQ or submit a question to our mail list.

When you have learned the basic functionality of the program, you can use several features of this website to prepare your own analysis:

Learn about best practices for imputation.
Download reference data that you can use to impute genotypes in your study.
Look through a complete list of program options.

Address of the bookmark: https://mathgen.stats.ox.ac.uk/impute/impute_v2.html

Statistical for biological research

Neel — Thu, 03 Nov 2016 04:59:48 -0500

There is no disputing the importance of statistical analysis in biological research, but too often it is considered only after an experiment is completed, when it may be too late.

This collection highlights important statistical issues that biologists should be aware of and provides practical advice to help them improve the rigor of their work.

Nature Methods' Points of Significance column on statistics explains many key statistical and experimental design concepts. Other resources include an online plotting tool and links to statistics guides from other publishers.

Address of the bookmark: http://www.nature.com/collections/qghhqm

AnnotationSketch

Jit — Sun, 25 Jun 2017 17:54:22 -0500

The AnnotationSketch module is a versatile and efficient C-based drawing library for GFF3-compatible genomic annotations. It is included in the GenomeTools distribution. Additionally, bindings to the Lua, Python and Rubyprogramming languages are provided.

http://genometools.org/annotationsketch.html

Address of the bookmark: http://genometools.org/annotationsketch.html

Comparative genomics educational material and papers bookmarks

Jit — Wed, 09 Nov 2016 16:23:30 -0600

Alignment of the porcine genome against seven other mammalian genomes (Supplementary Information) identified homologous synteny blocks (HSBs). Using porcine HSBs and stringent filtering criteria, 192 pig-specific evolutionary breakpoint regions (EBRs) were located. The number of porcine EBRs is comparable to the number of bovine-lineage-specific EBRs (100) reported earlier using a slightly lower resolution (500 kilobases (kb)), indicating that both lineages evolved with an average rate of ~2.1 large-scale rearrangements per million years after the divergence from a common cetartiodactyl ancestor ~60 Myr ago². This rate compares to ~1.9 rearrangements per million years within the primate lineage (Supplementary Table 11). A total of 20 and 18 cetartiodactyl EBRs (shared by pigs and cattle) were detected using the pig and human genomes as a reference, respectively.

Address of the bookmark: http://www.nature.com/nature/journal/v491/n7424/abs/nature11622.html

chromoMap-An R package for Interactive Visualization and Annotation of Chromosomes

Neel — Fri, 12 Apr 2019 05:30:41 -0500

Provides interactive, configurable and elegant graphics visualization of the chromosomes or chromosome regions of any living organism allowing users to map chromosome elements (like genes, SNPs etc.) on the chromosome plot. It introduces a special plot viz. the "chromosome heatmap" that, in addition to mapping elements, can visualize the data associated with chromosome elements (like gene expression) in the form of heat colors which can be highly advantageous in the scientific interpretations and research work. The package provide multiple features like visualizing multiple sets, chromosome heat-maps, group annotations, adding hyperlinks, and labelling. The plots can be saved as HTML documents that can be customized and shared easily. In addition, you can include them in R Markdown or in R 'Shiny' applications.

Address of the bookmark: https://cran.r-project.org/web/packages/chromoMap/vignettes/chromoMap.html

Research Officer at National Tea Research Foundation

Fri, 18 Nov 2016 04:19:24 -0600

National Tea Research Foundation (NTRF) a registered body, requires qualified and experienced agricultural research scientist for contractual appointment as per details below :

Post Research Officer, NTRF, Kolkata

Essential Post Graduate degree in Life Science having special paper in Bioinformatics. Post Graduate degree in Bioinformatics.

Desirable Ph. D. in the area of computational biology or bioinformatics.

Job Experience Work experience on database development, capable to work independently and efficient in bioinformatics related project.

Job Responsibility

To develop database on various aspects of tea research.

Screening of the In-house projects of NTRF at the preliminary level.

Review and evaluation of In-house projects of NTRF. Technical monitoring of the In-house projects of NTRF.

Reviewing the final technical report of the In-house projects of NTRF.

Putting-up of same proposals for taking approval and sanction of the competent authority.

Physical and technical verification of the In-house projects of NTRF.

To assist in organizing seminars / workshops / meetings etc.

Interested candidate may appear for walk-in Interview on 17 th November, 2016

More Info :

http://www.teaboard.gov.in/pdf/Recruitment_for_the_post_of_Research_Officer_pdf7538.pdf

DRAM: Distilled and Refined Annotation of Metabolism

BioStar — Sat, 06 Jul 2024 04:19:45 -0500

DRAM (Distilled and Refined Annotation of Metabolism) is a tool for annotating metagenomic assembled genomes and VirSorter identified viral contigs. DRAM annotates MAGs and viral contigs using KEGG (if provided by the user), UniRef90, PFAM, dbCAN, RefSeq viral, VOGDB and the MEROPS peptidase database as well as custom user databases. DRAM is run in two stages. First an annotation step to assign database identifiers to gene, and then a distill step to curate these annotations into useful functional categories. Additionally, viral contigs are further analyzed during to identify potential AMGs. This is done via assigning an auxiliary score and flags representing the confidence that a gene is both metabolic and viral.

Ref https://genomicsaotearoa.github.io/metagenomics_summer_school/day4/ex15_gene_annotation_part3/#overview-of-drampy-annotate-output