Available data were analyzed to characterize the canonical phenotype and examine genotype–phenotype relationships. We ascertained a cohort of 28 families with ID due to putatively pathogenic ZNF292 variants that were identified via targeted and exome sequencing. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene ( ZNF292). Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. ![]() Genetics in Medicine volume 22, pages 538–546 ( 2020) Cite this article University of Washington Center for Mendelian Genomics (UW-CMG), &.Terms of Use.De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder High quality vector-based graphical exportĬopyright © 2022 MacVector, Inc. The table below list the major features present in the two programs īuilt-in Reference Assembly Editor/Viewer While not every Sequencher function and feature is present in MacVector with Assembler and MacVector provides many additional sequence analysis functions that are not present in Sequencher, the two applications are broadly similar when it comes to de novo and reference-based assembly capabilities. A unique "Dots" mode (not shown) replaces residues that match the consensus with a dot so that your eyes are immediately drawn to SNPs and other mismatches.Ĭomparison of MacVector with Assembler and Sequencher Functionality Unlike Sequencher, trimmed bases are not deleted, but are simply shown greyed out and can be hidden/shown with a simple toolbar button click. MacVector displays the information in two panes in a single window, along with (optionally) quality information. ![]() Sequencher uses two coordinated windows to displaythe contig alignment and any associated chromatogram files Unlike Sequencher, MacVector lets you have multiple projects open at one time. Like Sequencher, MacVector with Assembler provides a simple Project-oriented interface where you can import and drag and drop files for Assembly. It provides almost all of the functionality of Sequencher within an updated modern interface, along with a host of additional functionality and integration with all of the DNA analysis tools within the core MacVector application.įor a limited time, we are offering a 50% discount to all Sequencher users who wish to upgrade to MacVector with Assembler. MacVector with Assembler has been fully 64-bit for many years (since MacVector 13) and has no dependency on the "Carbon" framework. That day ihas finally arrived and until Sequencher is completely rewritten for the latest macOS, you cannot upgrade your Mac to Catalina. The root of this problem is that Sequencher 5.4.6 (the latest version for the Mac) is a 32-bit application and is particularly reliant on an ancient "Carbon" OS 9-compatibility framework that Apple has been telling developers for many years will be phased out in the near future. If you use the popular Sequencher sequence assembly program from Genecodes you cannot run the current version of Sequencher ![]() Sequencher does not run on macOS 10.15 ("Catalina") Sequence Analysis Tools for Molecular BiologistsĬomparing MacVector with Assembler with Sequencher
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