Fermi is a de novo assembler with a particular focus on assembling Illumina short sequence reads from a mammal-sized genome. In addition to the role of a typical assembler, fermi also aims to preserve heterozygotes which are...
OPERA (Optimal Paired-End Read Assembler) is a sequence assembly program (http://en.wikipedia.org/wiki/Sequence_assembly). It uses information from paired-end/mate-pair/long reads to order and orient the intermediate contigs/scaffolds assembled in a...
This is really difficult questions to answer ! As per my knowledge most of the data is not well connected to extract all in one go. Anyway, you can try followings link, if it could help. 1. SNPs with clinical significance may be...
I used these two tools for validaions, hope useful.
REAPR: a universal tool for genome assembly evaluation http://genomebiology.biomedcentral.com/articles/10.1186/gb-2013-14-5-r47
QUAST: quality assessment tool for genome...
You can try the following as well:
Assembly Likelihood Evaluation (ALE) framework http://bioinformatics.oxfordjournals.org/content/29/4/435
Computing Genome Assembly Likelihoods (CGAL)...
GAGE is an evaluation of the very latest large-scale genome assembly algorithms. We have organized this "bake-off" as an attempt to produce a realistic assessment of genome assembly software in a rapidly changing field of next-generation sequencing....
There are varied sources of information that can provide clues regarding the correctness of assemblies. Examples of such data are: Mate-pair information, unused read information, correlated polymorphisms, consistency of assembly with the...
ACT is a Java application for displaying pairwise comparisons between two or more DNA sequences. It can be used to identify and analyse regions of similarity and difference between genomes and to explore conservation of synteny, in the context of...