Results for "Rare 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. Th...

    3778 days ago

  • Bioinformatics Protocols

    RNA Seq Basic Galaxy Tutorial RNA-Seq tutorial...tutorial we cover the concepts of detecting small variants (SNVs and indels) in human ge...le of aligned reads and generates a list of likely variants in VCF format Pipelines are...

    3615 days ago

  • Integrative Genomics Viewer (IGV) tutorial

    The Integrative Genomics Viewer (IGV) from the Broad Center allows you to view seve...g how reads from a dataset are mapped, gene annotations, and predicted genetic variants. http://www.broadinstitute.o...

    3547 days ago

  • Google Genomics

    Google Genomics provides an API to store, process, explore, and share DNA sequence...l computing frameworks like MapReduce. Explore data by slicing alignments and variants by genomic range across one o...

    3450 days ago

  • BreakSeq2

    Ultrafast and accurate nucleotide-resolution analysis of structural variants More at http://bioinform.github.io/brea...

    2949 days ago

  • DISCOVAR

    DISCOVAR is a new variant caller and DISCOVAR de novo a...at was not previously possible. DISCOVAR can call variants on a region by region basis,...arge and small genomes. It currently does not call variants. More at https://www.broadin...

    2901 days ago

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

    Assembly Likelihood Evaluation (ALE) framework that overcomes these limitations, sy...base level with Illumina data, ALE recovers 215 of 222 (97%) single nucleotide variants in a training set from a GC-r...

    2893 days ago

  • HistoneDB 2.0 – with variants

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

    2855 days ago

  • methylKit

    methylKit is an R package for DNA methylation analysis and annotation from high-thr...encing. The package is designed to deal with sequencing data from RRBS and its variants, but also target-capture meth...

    2855 days ago

  • Understanding PacBio

    This tutorial includes resources for learning more about PacBio data and bioinforma...me analysis Base Modification Analysis Barcoding Data Analysis Tools Minor Variants and Phasing Analysis...

    2589 days ago