ABSTRACT
We present HiGlass, an open source visualization tool built on web technologies that provides a rich interface for rapid, multiplex, and multiscale navigation of 2D genomic maps alongside 1D genomic tracks, allowing users to combine various data types, synchronize multiple visualization modalities, and share fully customizable views with others. We demonstrate its utility in exploring different experimental conditions, comparing the results of analyses, and creating interactive snapshots to share with collaborators and the broader public. HiGlass is accessible online at http://higlass.io and is also available as a containerized application that can be run on any platform.
Subject(s)
Chromosome Mapping , Genome , Internet , User-Computer InterfaceABSTRACT
In many next-generation sequencing (NGS) studies, multiple samples or data types are profiled for each individual. An important quality control (QC) step in these studies is to ensure that datasets from the same subject are properly paired. Given the heterogeneity of data types, file types and sequencing depths in a multi-dimensional study, a robust program that provides a standardized metric for genotype comparisons would be useful. Here, we describe NGSCheckMate, a user-friendly software package for verifying sample identities from FASTQ, BAM or VCF files. This tool uses a model-based method to compare allele read fractions at known single-nucleotide polymorphisms, considering depth-dependent behavior of similarity metrics for identical and unrelated samples. Our evaluation shows that NGSCheckMate is effective for a variety of data types, including exome sequencing, whole-genome sequencing, RNA-seq, ChIP-seq, targeted sequencing and single-cell whole-genome sequencing, with a minimal requirement for sequencing depth (>0.5X). An alignment-free module can be run directly on FASTQ files for a quick initial check. We recommend using this software as a QC step in NGS studies. AVAILABILITY: https://github.com/parklab/NGSCheckMate.
Subject(s)
High-Throughput Nucleotide Sequencing/methods , Sequence Analysis, DNA/methods , DNA Copy Number Variations , Genetic Predisposition to Disease , Genome, Human , Genome-Wide Association Study , High-Throughput Nucleotide Sequencing/standards , Humans , Neoplasms/genetics , Polymorphism, Single Nucleotide , Quality Control , Reference Standards , Sequence Analysis, DNA/standards , SoftwareABSTRACT
Cheating in the undergraduate classroom is not a new problem, and it is recognized as one that is endemic to the education system. This paper examines the highly normative behavior of using unauthorized assistance (e.g., a solutions manual or a friend) on an individual assignment within the context of an upper division undergraduate course in engineering mechanics. The findings indicate that there are varying levels of accepting responsibility among the students (from denial to tempered to full) and that acceptance of responsibility can lead to identification of learning and necessary behavioral changes. The findings have implications for institutions and engineering faculty, in particular the need for consistent academic integrity education and the teaching of professional integrity and ethics.