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Narcis Fernandez-Fuentes Lab
Welcome to our web-site compiling all the research-related activities of the group. Our research interests relate to a number of areas within Bioinformatics. We have a long-standing interest in protein structure prediction and structure-to-function...
GAM-NGS: genomic assemblies merger for next generation sequencing
By Jit 3313 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 3289 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...pbalign: maps PacBio reads to reference sequences and saves alignments to a BAM file
By Jit 2943 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...nanofilt: Filtering and trimming of long read sequencing data
By Jit 2876 days ago Comments (1)github.com - Filtering on quality and/or read length, and optional trimming after passing filters.Reads from stdin, writes to stdout. Intended to be used: directly after fastq extraction prior to mapping in a stream between extraction and...BASE: a practical de novo assembler for large genomes using long NGS reads
By Rahul Nayak 2795 days agogithub.com - new de novo assembler called BASE. It enhances the classic seed-extension approach by indexing the reads efficiently to generate adaptive seeds that have high probability to appear uniquely in the genome. Such seeds form the basis for BASE...nQuire: A statistical framework for ploidy estimation using NGS short-read data
By Jit 2691 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...ClinCNV: Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data
By Neel 2341 days agogithub.com - ClinCNV detects CNVs in germline and somatic context in NGS data (targeted and whole-genome). We work in cohorts, so it makes sense to try ClinCNV if you have more than 10 samples (recommended amount - 40 since we estimate variances from...LoFreq*: A sequence-quality aware, ultra-sensitive variant caller for NGS data
By BioStar 2309 days agocsb5.github.io - LoFreq* (i.e. LoFreq version 2) is a fast and sensitive variant-caller for inferring SNVs and indels from next-generation sequencing data. It makes full use of base-call qualities and other sources of errors inherent in sequencing (e.g. mapping or...FiNGS: Filters for Next Generation Sequencing
By Neel 1934 days agogithub.com - Key features Filters SNVs from any variant caller to remove false positives Calculates metrics based on BAM files and provides filtering not possible with other tools Fully user-configurable filtering (including which filters to use and their...
