Results for "Variation and Disease"

Top-level pages

  • Genome Assembly Tools and Software - PART1 !!

    The genome assemblers generally take a file of short sequence reads and a file of quality-value as the inpu...SWAP-Assembler is the fastest and most efficient assemblers eve...assembled sequence. Structure variation and mis-assembly can be...ler 20160120 – Scalable and Accurate Targeted Gene Assemb...

    2705 days ago

  • Quick next generation sequencing (NGS) terms definition

    fragment size: the Illumina WGS protocol generates paired-end reads from bot...xpected”: (a) mapped to opposing strands where the upstream read is mapped to the forward strand and the downstream read is ma...n, it signals for a potential copy number variati...

    2542 days ago

  • Phylogenetic & Molecular Genetics Terms and Definitions

    analog -- A feature that appears similar in two taxa which have origi...here "hair" is the character, and "present" and "absent" are its states. cla...condition of that character, and to have arisen later in the e...describe numbers of taxa, or variation in morphology.  e...

    2482 days ago

  • Single Cell RNAseq data analysis tutorial !!

    A major breakthrough (replaced microa...rrays) in the late 00’s and has been widely used since M...from ensembles, e.g. in disease studies Insufficient&nbs...y human islet cell signatures and reveal cell-type-specific exp...56605/SLICER SinQC: A Method and Tool to Control Single-cell RNA-s...

    2370 days ago

  • List of visualization tools for genome alignments

    Genome browsers are useful not only for showing final results bu...tocols, testing data quality, and generating result drafts. Its integ...gle nucleotide and structural variation http://lookseq.sourcef...nt, identification of genetic variation and association with an...

    2303 days ago

  • Webinar on RNA-Seq Data Analysis on 28 Feb 2018

    Strand NGS is a biologist friendly N...ion analysis, Splicing events and gene fusion detection. Strand...will highlight the use of Strand NGS features such as PCA, sam...data analysis workflow in Strand NGS. Details:Session 1: 28 F...and personalized medicine for disease management and prenatal testi...

    2284 days ago

  • Tools to Predict the Impact of Missense Variants !

    ...studies for exploring complex and Mendelian diseases. A large number of ...ndent Depletion, LRT, phyloP, and GERP++, as well as optimized...(MT2)“Evaluation of the disease‐causing potential of DNA sequ...values based on an alignment and a model of neutral evolution&rdqu...

    2223 days ago