Carefully opt for human reference genome
Heng Li posted several issues with the human reference genomes given in these resources and suggests the following compressed FASTA file to be used as hg38/GRCh38 human reference genome. if you map reads to GRCh38 or hg38, use the following: ftp://ftp.ncbi.nlm.nih.gov/genomes/all/GCA/000/00...Tags: Carefully, opt, human, reference, genome
1536 days ago
chromoMap-An R package for Interactive visualization and mapping of human chromosomes
chromoMap is an R package that provides interactive, configurable and elegant graphics visualization of the human chromosomes allowing users to map chromosome elements (like genes, SNPs etc.) on the chromosome plot. It introduces a special plot viz. the "chromosome heatmap" that, in addition to m...Tags: R, package, Interactive, visualization, mapping, human, chromosomes, chroMap
2139 days ago
HumCFS: a database of fragile sites in human chromosomes
Fragile sites are specific chromosomal region that exhibit an increased frequency of chromosdomal breakge when cells are exposed to replicative stress. Since from the discovery of chromosomal fragile sites/regions (CFS), several line of evidence suggests their involvement in human pathologies and...Tags: HumCFS, database, fragile, human, chromosomes
1839 days ago
Tags: reconstructed, genome, human, 5700, years, Denmark, ancient
1597 days ago
SeqMule: Automated human exome/genome variants detection
SeqMule takes single-end or paird-end FASTQ or BAM files, generates a script consisting of more than 10 popular alignment, analysis tools and runs the script line by line. Users can change the pipeline or fine-tune the parameters by modifying its configuration file.Tags: SeqMule, Automated, human, exome, genome, variants, detection
1536 days ago
PLAR: Pipeline for lncRNA annotation from RNA-seq data
Due to several requests, we are releasing an assingment of orthologs, determined using the same methods used in Hezroni et al. (BLAST, Whole Genome Alignment (WGA), and synteny). One is comparing human GENCODE genes (from GENCODE v30) to lncRNAs from other species identified by PLAR. Available&nb...Tags: lncRNA, data, human, genome, plar
847 days ago
The complete sequence of a human genome
The completed regions include all centromeric satellite arrays, recent segmental duplications, and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and functional studies.Tags: complete, sequence, human, genome
764 days ago