CMSC 423 Project 3 (The FM-index) : Overview

This assignment deals with the construction and querying of the FM index. As we saw in class, having a useful FM index relies upon having (at least sampled) suffix array entries to recall the actual positions of the matching patterns. Thus, this project assumes that you have a working suffix array construction implementation.

If you completed project 2 and implemented your own suffix array construction routines, I strongly encourage you to use those. However, if you didn’t complete project 2 successfully and are therefore in need of an efficient suffix array construction implementation, you can find a starter project in Java here and in C++ here.

Much like project 2, your project will consist of 3 executables buildfm, inspectfm, and queryfm which are described in more detail below. Though you will implement 3 programs, you can think of the project as being broken into two parts.

In the first part of the project, you will implement a program to read a reference sequence from a FASTA file, to construct the suffix array and FM index on this sequence, and then to write the suffix array and FM index to file in a binary format. You will also implement a program to read the saved file from disk, produce a textual representation of the FM index, and write that representation to an output file.

In the second part of the project, you will implement a program to read your serialized index from file, as well as to read an input FASTA file containing many queries and an execution mode. Your program will then produce an output file with the query results in a well-specified output format.

NOTE : The timeout for all tests for the gradescope server will be 30 minutes

Overall structure

You will submit your assignment as a tarball named CMSC423_F21_A3.tar.gz. When this tarball is expanded, it should create a single folder named CMSC423_F21_A3. This folder must be created in the directory where the decompression (i.e. tar xzvf) is done, and must not be nested inside any other folders. The details of how you structure your “source tree” are up to you, but the following must hold (to enable proper automated testing of your programs).

  • There should be a script at the top-level of CMSC423_F21_A3 called build.sh. This should do whatever is necessary to create 3 executables at the top level (one called buildfm and one called inspectfm and one called queryfm). If you’re comfortable with Makefiles, this can just call make, or it could simply run the commands necessary to compile your programs and copy them to the top-level directory. You can assume this script is run in a bash shell.

  • There should be a README.md file in the top level directory. This README file should contain the following information.

    • What language have you written your solution in?
    • What did you find to be the hardest part of this assignment?
    • What resources did you consult in working on this assignment (view this as a form of citation; you shouldn’t copy code directly from anywhere in your assignment, but if you consulted other sources please list them here).

Turnin : The assignment turnin will be handled using Gradescope. We intend to have the infrastructure for this set up by the end of this week.

Part (a), constructing and inspecting the

In this part of the assignment, you will write two programs. The first program will be called buildfm; it will read in a “genome” (in FASTA) format, build the suffix array and FM index on this reference, and write the suffix array and FM index to a binary file. The second program will be called inspectfm; it will read in the binary file written by buildfm, and then it will compute a textual representation of the FM index and write out a file containing this representation.

buildfm

buildfm: Input

The input consists of 2 arguments, given in this order:

  • reference - the path to a FASTA format file containing the reference of which you will build the suffix array.
  • output - the program will write a single binary output file to a file with this name, that contains a serialized version of the suffix array and the FM index.

buildfm: Output

Your program will output a file with the name given by the output argument above. This must be a binary file holding everything necessary to perform query using your FM index. Specifically, it should include an encoding of the suffix array, the BWT of the string, the first column of the FM index and the “tally” table used to perform occ queries during the backward search procedure.

Note: The specific binary encoding is up to you. You are allowed to use an external serialization library for this component, but the serialization must be to a binary (not text) format. In C++ you could use something like cereal or bitsery; in Rust you could use soemthing like rkyv or serde with bincode. For reasons mentioned previously (and for the sake of not running into performance issues in future projects), I’d not recommend using Python for this project.

inspectfm

inspectfm: Input

The input consists of 3 arguments, given in this order:

  • index - the path to the binary file containing your serialized FM index array (as written by buildfm above).
  • sample_rate - the rate at which “tally table” entries will be sampled in your output (see below).
  • output - the program will write output to this file containing a textual representation of your FM index.

inspectfm: Output

Your program will output a file with the name given by the output argument above. The output will consist of the following information:

  • first column : A tab-separated list of the counts of $,A,C,G,T in the text (in this order).

  • BTW(T) : The Burrows–Wheeler transform of the original text.

  • tally spot check A : This is a textual representation of certain values within the tally array for the A character. Specifically, this line should encode a list of tab-separated integers that consists of the following entries of the tally array for the character A : [sample_rate0, sample_rate1, sample_rate2, …, sample_ratefloor(text-length / sample_rate)].

  • tally spot check C : This is a textual representation of certain values within the tally array for the C character. Specifically, this line should encode a list of tab-separated integers that consists of the following entries of the tally array for the character C : [sample_rate0, sample_rate1, sample_rate2, …, sample_ratefloor(text-length / sample_rate)].

  • tally spot check G : This is a textual representation of certain values within the tally array for the G character. Specifically, this line should encode a list of tab-separated integers that consists of the following entries of the tally array for the character G : [sample_rate0, sample_rate1, sample_rate2, …, sample_ratefloor(text-length / sample_rate)].

  • tally spot check T : This is a textual representation of certain values within the tally array for the T character. Specifically, this line should encode a list of tab-separated integers that consists of the following entries of the tally array for the character T : [sample_rate0, sample_rate1, sample_rate2, …, sample_ratefloor(text-length / sample_rate)].

Part (b), querying the FM index

In the second part of the assignment, you will implement a program for querying patterns in the text using your FM index. Your program for this part should be called queryfm. This program will take as input 4 arguments, your serialized FM index, a FASTA file containing queries, a query mode parameter, and an output file name. It will perform query in the FM index and report the results in the output file specified in the format specified below.

queryfm: Input

  • index - the path to the binary file containing your serialized suffix array (as written by buildsa above).
  • queries - the path to an input file in FASTA format containing a set of records. Unlike project 1 you will need to care about both the name and sequence of these FASTA records, as you will report the output using the name that appears for a record. Note, query sequences can span more than one line (headers will always be on one line).
  • query mode - this argument should be one of two strings; either complete or partial. If the string is complete you should perform your queries using the backward search algorithm and only report hits for a pattern if it matches, in its entirety, in the text. If the string is partial you should perform backward search and return the length and positions of the longest matching suffix of the query pattern in the text.
  • output - the name to use for the resulting output.

queryfm: Output

  • output - the output file of your program. This file should contain the results of your queries in the following format. Each line should contain a tab-separated list containing the following information:

    • query_name, match_len, k, hit_1, hit_2, hit_k

Here, the query_name is simply the header of the corresponding FASTA entry (the string after the >not including the > on the header line). The value match_len is the length of the match. If your program was run with query_mode of complete then match_len should be either the full length of the query string (if there were hits) or 0 (if there were no hits). If your program was run with query_mode of partial then match_len should be the length of the longest mached suffix of the pattern. The value k is the number of occurrences of the query string (or the longest matched suffix the query string) in the underlying text on which the FM index is built. Finally, hit_1 through hit_k are the positions in the original text (0-indexed) where the query string (or the longest matched suffix of the query string) occurs. If you are running in complete query mode and a query string does not occur in the text, or if you are running in partial mode and the last character in the query does not appear in the text, then you should report k = 0, and there will be no hit_1, … etc. entries for that query.