Structural variation: the hidden genomic treasure
...have proven to be particularly useful for detecting copy number variations (CNVs). These technologies have enabled researchers to catalog a wide spectrum of SVs in many organisms and...2701 days ago
Software and Tools to detect structure variation with long reads !!
...t and variant breakpoints at the sequence level to unravel the genetic etiology of disease Resolve structural variation across the complete size spectrum with basepair resolution F...2607 days ago
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Musket: a multistage k-mer spectrum based corrector
...ablished leading next-generation sequencing read error correction algorithm targetting Illumina sequencing. This corrector employs the k-mer spectrum approach and introduces three...2341 days ago
Genome Assembly Tools and Software - PART2 !!
...ble RNA-seq reads in the absence of a reference genome, across a broad spectrum of expression values and in p...of platforms including Illumina and Roche/454. ViSpA 02 – Viral Spectrum AssemblerViSpA (Viral Sp...2684 days ago
Worldwide funding agencies to fund your bioinformatics research !!
...er term research efforts in the areas of Biomedical and clinical research. The Muscular Dystrophy Association: The MDA is pursuing the full spectrum of research approaches that a...2937 days ago
List of non-commercial NGS genotype-calling software
...rfinn/realSFS/ Single-sample Aligned reads Software for SNP and genotype calling using single individuals and allele frequencies. Site frequency spectrum (SFS) estimation Samtools ht...2095 days ago
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Genetics, epigenetics and disease
...airs long, CG, which occurs in several chemically different forms. Defects in signalling by CG are implicated in disease. For example, the autism spectrum disorder Rett syndrome is cau...3872 days ago
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