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EXCAVATOR: detecting copy number variants from whole-exome sequencing data
By Radha Agarkar 2152 days agosourceforge.net - EXCAVATOR, for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR combines a three-step normalization procedure with a novel heterogeneous hidden Markov model algorithm and a calling method that classifies...DeepVariant : an analysis pipeline that uses a deep neural network to call genetic variants from...
By Jit 1766 days agogithub.com - DeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation DNA sequencing data. DeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation...Smudgeplot: Inference of ploidy and heterozygosity structure using whole genome sequencing data
By Neel 1004 days agogithub.com - This tool extracts heterozygous kmer pairs from kmer count databases and performs gymnastics with them. We are able to disentangle genome structure by comparing the sum of kmer pair coverages (CovA + CovB) to their relative coverage (CovB / (CovA +...CheckM:Assessing the quality of microbial genomes recovered from isolates, single cells, and...
By Rahul Nayak 2378 days ago Comments (2)ecogenomics.github.io - CheckM provides a set of tools for assessing the quality of genomes recovered from isolates, single cells, or metagenomes. It provides robust estimates of genome completeness and contamination by using collocated sets of genes that are ubiquitous...Troyanskaya Lab
The goal of our research is to interpret and distill this complexity through accurate analysis and modeling of molecular pathways, particularly those in which malfunctions lead to the manifestation of disease. We are inventing integrative methods...Liftoff: an accurate tool that maps annotations in GFF or GTF between assemblies
By Jit 1608 days agogithub.com - Liftoff, an accurate tool that maps annotations in GFF or GTF between assemblies of the same, or closely-related species. Unlike current coordinate lift-over tools which require a pre-generated “chain” file as input, Liftoff is a...Cleaner BLAST Databases for More Accurate Results
By LEGE 216 days agoRemoving contaminated sequences using NCBI quality assurance toolsTadpole: an assembler, error-corrector, and read-extender
By BioStar 1755 days agojgi.doe.gov - Tadpole is a kmer-based assembler, with additional capabilities of error-correcting and extending reads. It does not do any complicated graph analysis or scaffolding, and therefore, is not particularly good for diploid organisms. Tadpole is...Omega2: metagenome assembly pipeline
By Jit 2695 days agoomega.omicsbio.org - Omega found overlaps between reads using a prefix/suffix hash table. The overlap graph of reads was simplified by removing transitive edges and trimming short branches. Unitigs were generated based on minimum cost flow analysis of the overlap graph...String graph based genome assembly software and tools !
By Rahul Nayak 2533 days agoIn graph theory, a string graph is an intersection graph of curves in the plane; each curve is called a "string". String graphs were first proposed by E. W. Myers in a 2005 publication.
