Mauve has been developed with the idea that a multiple genome aligner should require only modest computational resources. It employs algorithmic techniques that scale well in the lengths of sequences being aligned. For example, a pair of Y. pestis genomes can be aligned in under a minute, while a group of 9 divergent Enterobacterial genomes can be aligned in a few hours. However, the current algorithm’s compute time (progressiveMauve) scales cubically in the number of genomes to align, making it unsuitable for datasets containing more than 50-100 bacterial genomes.

Address of the bookmark: http://darlinglab.org/mauve/mauve.html

So far miniasm is in early development stage. It has only been tested on a dozen of PacBio and Oxford Nanopore (ONT) bacterial data sets. Including the mapping step, it takes about 3 minutes to assemble a bacterial genome. Under the default setting, miniasm assembles 9 out of 12 PacBio datasets and 3 out of 4 ONT datasets into a single contig. The 12 PacBio data sets are PacBio E. coli sample, ERS473430, ERS544009, ERS554120, ERS605484, ERS617393, ERS646601, ERS659581, ERS670327, ERS685285, ERS743109 and a deprecated PacBio E. coli data set. ONT data are acquired from the Loman Lab.

For a C. elegans PacBio data set (only 40X are used, not the whole dataset), miniasm finishes the assembly, including reads overlapping, in ~10 minutes with 16 CPUs. The total assembly size is 105Mb; the N50 is 1.94Mb. In comparison, the HGAP3produces a 104Mb assembly with N50 1.61Mb. This dotter plot gives a global view of the miniasm assembly (on the X axis) and the HGAP3 assembly (on Y). They are broadly comparable. Of course, the HGAP3 consensus sequences are much more accurate. In addition, on the whole data set (assembled in ~30 min), the miniasm N50 is reduced to 1.79Mb. Miniasm still needs improvements.

Miniasm confirms that at least for high-coverage bacterial genomes, it is possible to generate long contigs from raw PacBio or ONT reads without error correction. It also shows that minimap can be used as a read overlapper, even though it is probably not as sensitive as the more sophisticated overlapers such as MHAP and DALIGNER. Coupled with long-read error correctors and consensus tools, miniasm may also be useful to produce high-quality assemblies.

Minimap and miniasm are ultrafast tools for (i) mapping and (ii) assembly. Designed for long, noisy reads, they do not have a correction or consensus step, and therefore the resulting assemblies are contiguous (i.e. long) but very noisy (i.e. full of errors)

We start with an all against all comparison:

minimap -Sw5 -L100 -m0 -t8 reads.fq reads.fq | gzip -1 > reads.paf.gz

Then we can assemble

miniasm -f reads.fq reads.paf.gz > reads.gfa

Convert GFA to FASTA:

awk '/^S/{print ">"$2"\n"$3}' reads.gfa | fold > reads.fa

And then count how many contigs:

grep ">" reads.fa | wc -l

# Download sample PacBio from the PBcR website
wget -O- http://www.cbcb.umd.edu/software/PBcR/data/selfSampleData.tar.gz | tar zxf -
ln -s selfSampleData/pacbio_filtered.fastq reads.fq
# Install minimap and miniasm (requiring gcc and zlib)
git clone https://github.com/lh3/minimap && (cd minimap && make)
git clone https://github.com/lh3/miniasm && (cd miniasm && make)
# Overlap
minimap/minimap -Sw5 -L100 -m0 -t8 reads.fq reads.fq | gzip -1 > reads.paf.gz
# Layout
miniasm/miniasm -f reads.fq reads.paf.gz > reads.gfa

Address of the bookmark: https://github.com/lh3/miniasm

In C, "sequence statements" are imperatives. The "selection" is the "if then else" statement, and the iteration is satisfied by a number of statements, such as the "while," " do," and the "for," while the case-type statement is satisfied by the "switch" statement.

Pseudocode is an artificial and informal language that helps programmers develop algorithms. Pseudocode is a "text-based" detail (algorithmic) design tool.

The rules of Pseudocode are reasonably straightforward. All statements showing "dependency" are to be indented. These include while, do, for, if, switch. Examples below will illustrate this notion.

GUIDE TO PSEUDOCODE LEVEL OF DETAIL: Given record/file descriptions, pseudocode should be created in sufficient detail so as to directly support the programming effort. It is the purpose of pseudocode to elaborate on the algorithmic detail and not just cite an abstraction.

Examples:

1.

If student's grade is greater than or equal to 60
    Print "passed"
else
    Print "failed"  
endif

2.

  
Set total to zero
Set grade counter to one
While grade counter is less than or equal to ten
    Input the next grade
    Add the grade into the total
endwhile 
Set the class average to the total divided by ten
Print the class average.

3.

Initialize total to zero
Initialize counter to zero
Input the first grade
while the user has not as yet entered the sentinel
   add this grade into the running total 
   add one to the grade counter  
   input the next grade (possibly the sentinel)
endwhile

if the counter is not equal to zero
   set the average to the total divided by the counter
   print the average  
else
   print 'no grades were entered' 
endif 

4.

initialize passes to zero
initialize failures to zero
initialize student to one
while student counter is less than or equal to ten
    input the next exam result  
    if the student passed

add one to passes else add one to failures add one to student counter endif endwhile print the number of passes print the number of failures if eight or more students passed print "raise tuition" endif

5.

Larger example:  

NOTE:  NEVER ANY DATA DECLARATIONS IN PSEUDOCODE

Print out appropriate heading and make it pretty
While not EOF do:
     Scan over blanks and white space until a char is found 
	(get first character on the line)
     set can't-be-ascending-flag to 0
     set consec cntr to 1
     set ascending cntr to 1
     putchar first char of string to screen
     set read character to hold character
     While next character read != blanks and white space
          putchar out on screen
          if new char = hold char + 1
               add 1 to consec cntr
               set hold char = new char
               continue
          endif
          if new char >= hold char 
               if consec cntr < 3 
                    set consec cntr to 1
               endif
               set hold char = new char
               continue
          endif
          if new char < hold char
               if consec cntr < 3
                    set consec cntr to 1
               endif
               set hold char = new char
               set can't be ascending flag to 1
               continue
           endif
     end while
     if consec cntr >= 3 
          printf (Appropriate message 1 and skip a line)
          add 1 to consec total
     endif
     if  can't be ascending flag = 0
          printf (Appropriate message 2 and skip a line)
          add 1 to ascending total
     else
          printf (Sorry message and skip a line)
          add 1 to sorry total
     endif
end While
Print out totals:  Number of consecs, ascendings, and sorries.
Stop

Some Keywords That Should be Used And Additional Points

For looping and selection, The keywords that are to be used include Do While...EndDo; Do Until...Enddo; While .... Endwhile is acceptable. Also, Loop .... endloop is also VERY good and is language independent. Case...EndCase; If...Endif; Call ... with (parameters); Call; Return ....; Return; When;

Always use scope terminators for loops and iteration.

As verbs, use the words Generate, Compute, Process, etc. Words such as set, reset, increment, compute, calculate, add, sum, multiply, ... print, display, input, output, edit, test , etc. with careful indentation tend to foster desirable pseudocode. Also, using words such as Set and Initialize, when assigning values to variables is also desirable.

More on Formatting and Conventions in Pseudocoding

• INDENTATION in pseudocode should be identical to its implementation in a programming language. Try to indent at least four spaces.
• As noted above, the pseudocode entries are to be cryptic, AND SHOULD NOT BE PROSE. NO SENTENCES.
• No flower boxes (discussed ahead) in your pseudocode.
• Do not include data declarations in your pseudocode.
• But do cite variables that are initialized as part of their declarations. E.g. "initialize count to zero" is a good entry.

  ---

  Function Calls, Function Documentation, and Pseudocode
• Calls to Functions should appear as:
• Returns in functions should appear as:
• Function headers should appear as:
• Note that in C, arguments and parameters such as "fieldn" could be written: "pointer to fieldn ...."
• Functions called with addresses should be written as:
• Function headers containing pointers should be indicated as:
• Returns in functions where a pointer is returned:
• It would not hurt the appearance of your pseudocode to draw a line or make your function header line "bold" in your pseudocode. Try to set off your functions.
• Try to use scope terminators in your pseudocode and source code too. It really hels the readability of the text.

  ---

  Source Code
• EVERY function should have a flowerbox PRECEDING IT. This flower box is to include the functions name, the main purpose of the function, parameters it is expecting (number and type), and the type of the data it returns. All of these listed items are to be on separate lines with spaces in between each explanatory item.
• FORMAT of flowerbox should be

   

  	 ********************************************************
  	 Function:   ( cryptic text describing single function
  		     ....... (indented like this) 	
  		     .......
  	 Calls:      Start listing functions "this" function calls
  		     Show these functions:  one per line, indented
  
  	 Called by:  List of functions that calls "this" function
  		     Show these functions:  one per line, indented.
  
  	 Input Parameters:  list, if appropriate; else None
  	 
  	 Returns:    List, if appropriate.
  	 ****************************************************************
  

• INDENTATION is critically important in Source Code. Follow standard examples given in class. If in doubt, ASK. Always indent statements within IFs, FOR loops, WILLE loops, SWITCH statements, etc. a consistent number of spaces, such as four. Alternatively, use the tab key. One or two spaces is insufficient.
• Use scope terminators at the end of if statements, for statements, while statements, and at the end of functions. It will make your program much more readable.

  SPELLING ERRORS ARE NOT ACCEPTABLE

Address of the bookmark: https://github.com/marbl/MashMap

https://github.com/ggonnella/rgfa

Address of the bookmark: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103826/

Upcoming Deadlines
Regular Paper Submission: July 31, 2017
Regular Paper Authors Notification: October 16, 2017
Regular Paper Camera Ready and Registration: October 30, 2017

The purpose of the International Conference on Bioinformatics Models, Methods and Algorithms is to bring together researchers and practitioners interested in the application of computational systems, algorithmic concepts and information technologies to address challenging problems in Biomedical research with a particular focus on the emerging problems in Bioinformatics and computational biology. There is a tremendous need to explore how mathematical, statistical and computational models can be used to better understand biological processes and systems, while developing new methodologies and tools to analysis the massive currently-available biological data. Areas of interest to this community include systems biology, sequence analysis, biostatistics, image analysis, network and graph models, scientific data management and data mining, machine learning, pattern recognition, computational evolutionary biology, computational genomics and proteomics, and related areas.

Candidates interested in the position should contact me in advance by email to: g.stracquadanio@essex.ac.uk

The deadline for the application is 28/02/2017; info about the application can be found on the Essex CSEE website.

With advances in Cancer Genomics, Mutation Annotation Format (MAF) is being widley accepted and used to store variants detected. The Cancer Genome Atlas Project has seqenced over 30 different cancers with sample size of each cancer type being over 200. The resulting data consisting of genetic variants is stored in the form of Mutation Annotation Format. This package attempts to summarize, analyze, annotate and visualize MAF files in an efficient manner either from TCGA sources or any in-house studies as long as the data is in MAF format. Maftools can also handle ICGC Simple Somatic Mutation format.

maftools is on bioRxiv

Please cite the below if you find this tool useful for you.

Mayakonda, A. and H.P. Koeffler, Maftools: Efficient analysis, visualization and summarization of MAF files from large-scale cohort based cancer studies. bioRxiv, 2016. doi: http://dx.doi.org/10.1101/052662

Address of the bookmark: https://github.com/PoisonAlien/maftools

python finisherSC.py destinedFolder mummerPath

If you are running on server computer and would like to use multiple threads, then the following commands can generate 20 threads to run FinisherSC.

python finisherSC.py -par 20 destinedFolder mummerPath

Sometimes, if the names of raw reads and contigs consists of special characters/formats, FinisherSC/MUMmer may not parse them correctly. In that case, you want to have a quick renaming of the names of contigs/reads in contigs.fasta or raw_reads.fasta using the following command.

    perl -pe 's/>[^\$]*$/">Seg" . ++$n ."\n"/ge' raw_reads.fasta > newRaw_reads.fasta
    cp newRaw_reads.fasta raw_reads.fasta
    perl -pe 's/>[^\$]*$/">Seg" . ++$n ."\n"/ge' contigs.fasta > newContigs.fasta
    cp newContigs.fasta contigs.fasta

Address of the bookmark: https://github.com/kakitone/finishingTool