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Software and Tools to detect structure variation with long reads !!
By Archana Malhotra 2842 days agoStructural variation caller tools using long readsFastq format
By Jit 2794 days agoen.wikipedia.org - FASTQ format is a text-based format for storing both a biological sequence (usually nucleotide sequence) and its corresponding quality scores. Both the sequence letter and quality score are each encoded with a...GAM-NGS: genomic assemblies merger for next generation sequencing
By Jit 2778 days agogithub.com - GAM-NGS is a tool able to merge two or more assemblies in order to improve contiguity and correctness. It can be used on all NGS-based assembly projects and it shows its full potential with multi-library Illumina-based projects. With more than 20...BEDOPS v2.4.26: high-performance genomic feature operations
By Jit 2753 days agogithub.com - BEDOPS v2.4.26 is a suite of tools to address common questions raised in genomic studies — mostly with regard to overlap and proximity relationships between data sets. It aims to be scalable and flexible, facilitating the efficient and...MeDuSa: a multi-draft based scaffolder
By Abhimanyu Singh 2507 days agogithub.com - MeDuSa (Multi-Draft based Scaffolder), an algorithm for genome scaffolding. MeDuSa exploits information obtained from a set of (draft or closed) genomes from related organisms to determine the correct order and orientation of the contigs. MeDuSa...pbalign: maps PacBio reads to reference sequences and saves alignments to a BAM file
By Jit 2407 days agogithub.com - pbalign aligns PacBio reads to reference sequences, filters aligned reads according to user-specific filtering criteria, and converts the output to either the SAM format or PacBio Compare HDF5 (e.g., .cmp.h5) format. The output Compare HDF5 file...
Convert EnsEMBL GTF to Annotation table (Geneid, GeneSymbol, GeneWiseChrLocation, GeneClass,...
Last updated 2341 days ago by Jitendra NarayanBash Script source: https://gist.github.com/santhilalsubhash/367befcf5216be4b1fd9 Information: This script converts EnsEMBL GTF...Phased Human Genome Assembly !
By Rahul Nayak 2271 days agoDiploid Assembly of a Puerto Rican Female Adds a Rich Resource to Population-Specific Reference GenomesPlatypus: A Haplotype-Based Variant Caller For Next Generation Sequence Data
By Shruti Paniwala 2254 days agowww.well.ox.ac.uk - Platypus is a tool designed for efficient and accurate variant-detection in high-throughput sequencing data. By using local realignment of reads and local assembly it achieves both high sensitivity and high specificity. Platypus can detect...nQuire: A statistical framework for ploidy estimation using NGS short-read data
By Jit 2156 days agogithub.com - nQuire implements a set of commands to estimate ploidy level of individuals from species, where recent polyploidization occurred and intraspecific ploidy variation is observed. Specifically, nQuire uses next-generation sequencing data to distinguish...
