Results for "variants"

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  • RNA Sequencing Helps Identify Functional Variants from GWAS

    For Alzheimer’s and other complex disorders, mining the genome for disease-associated variants is no longer the obstacle. The challenge nowadays is figuring out how the identifie...

    3779 days ago

  • Bioinformatics Protocols

    ...tutorial In this tutorial we cover the concepts of detecting small variants (SNVs and indels) in human ge...s its input a BAM file of aligned reads and generates a list of likely variants in VCF format Pipelines are...

    3616 days ago

  • Integrative Genomics Viewer (IGV) tutorial

    ...olved in any NGS analysis that employs a reference genome, including how reads from a dataset are mapped, gene annotations, and predicted genetic variants. http://www.broadinstitute.o...

    3548 days ago

  • Google Genomics

    ...r Hardy-Weinberg equilibrium, in minutes or hours, by using parallel computing frameworks like MapReduce. Explore data by slicing alignments and variants by genomic range across one o...

    3451 days ago

  • BreakSeq2

    Ultrafast and accurate nucleotide-resolution analysis of structural variants More at http://bioinform.github.io/breakseq2/ Download BreakSeq2 Latest version: https://github.com/bioi...

    2950 days ago

  • DISCOVAR

    ...ss and continuity that was not previously possible. DISCOVAR can call variants on a region by region basis,...ssemblies for both large and small genomes. It currently does not call variants. More at https://www.broadin...

    2902 days ago

  • ALE: a Generic Assembly Likelihood Evaluation Framework for Assessing the Accuracy of Genome and Metagenome Assemblies

    ...ndently validated by Pacific Biosciences sequencing. At the single-base level with Illumina data, ALE recovers 215 of 222 (97%) single nucleotide variants in a training set from a GC-r...

    2894 days ago

  • HistoneDB 2.0 – with variants

    ...e used to explore the diversity of histone proteins and their sequence variants in many organisms. The resour...s of nucleosomes. To get started, select a histone type to explore its variants. More at http://www.ncb...

    2856 days ago

  • methylKit

    ...ylation analysis and annotation from high-throughput bisulfite sequencing. The package is designed to deal with sequencing data from RRBS and its variants, but also target-capture meth...

    2856 days ago

  • Understanding PacBio

    ...lides Specialized Applications: De Novo Assembly Transcriptome analysis Base Modification Analysis Barcoding Data Analysis Tools Minor Variants and Phasing Analysis...

    2590 days ago