Adulting Shorts: An Interview Tale, PART 2

Part 2 of the Transitions to Adulthood Center for Research\u27s An Interview Tale Comic depicts questions in an interview that a young adult may encounter. Please see our tip sheet, Do I Tell My Boss?: Disclosing My Mental Health Condition at Work for more information. Part 1 of An Interview Tale is here

For Families or Caregivers: Self-Care is Putting on YOUR Oxygen Mask First [English and Spanish versions]

A Spanish translation of this publication is available to download under Additional Files. This tip sheet was written by the Transitions to Adulthood Center for Research\u27s Family Advisory Board (FAB). The tip sheet is written for the parents and care-givers of young adults with serious mental health conditions. It provides explains why self-care is important and offers self-care tips and resources

Viewing multiple sequence alignments with the JavaScript Sequence Alignment Viewer (JSAV)

The JavaScript Sequence Alignment Viewer (JSAV) is designed as a simple-to-use JavaScript component for displaying sequence alignments on web pages. The display of sequences is highly configurable with options to allow alternative coloring schemes, sorting of sequences and ’dotifying’ repeated amino acids. An option is also available to submit selected sequences to another web site, or to other JavaScript code. JSAV is implemented purely in JavaScript making use of the JQuery and JQuery-UI libraries. It does not use any HTML5-specific options to help with browser compatibility. The code is documented using JSDOC and is available from http://www.bioinf.org.uk/software/jsav/

Before a Mental Health Crisis Hits: Creating a Family Safety Plan

A Family Safety Plan is a tool created collaboratively with your loved one with lived experience of mental health condition(s), family members, medical staff and friends. It’s your “playbook” of the best ways to minimize or divert a mental health crisis. The plan is prepared when your loved one is stable and can fully contribute. The goal of the plan is to identify possible triggers for a mental health issue and actions, under different scenarios, to minimize or prevent a crisis and ensure the safety of your loved one and other family members. This tip sheet was developed by our Family Advisory Board and describes what to include in a Family Safety Plan and tips about creating one

Parents Chime In: Our Self-Care Strategies While Supporting Loved Ones with Mental Health Conditions During a Pandemic

In the wake of COVID-19, that tried and true saying of “putting on your mask first before helping others” takes on a whole new meaning and it applies even more. We asked our Family Advisory Board members to provide thoughts on how they adapted their self-care strategies and to share tips on supporting their loved ones with mental health conditions in the face of the COVID-19 pandemic. See our For Families or Caregivers: Self-Care is Putting on YOUR Oxygen Mask First tip sheet here

Extracting human antibody sequences from public databases for antibody humanization: high frequency of species assignment errors

In antibody humanization, complementarity determining regions from a 'donor' antibody are often grafted onto a human framework selected by high sequence identity with the donor. In our own humanization experiments, we have found that species information is often incorrect. Here we take three mouse antibodies and perform BLAST searches against sequences annotated as being human. We find that the first genuine human hits for the six chains appear at Positions 30, 4, 11, 24, 18 and 29 in the hit lists. This illustrates both the need for caution in performing humanization and for improvements in annotation

Evaluating tools for transcription factor binding site prediction

Background: Binding of transcription factors to transcription factor binding sites (TFBSs) is key to the mediation of transcriptional regulation. Information on experimentally validated functional TFBSs is limited and consequently there is a need for accurate prediction of TFBSs for gene annotation and in applications such as evaluating the effects of single nucleotide variations in causing disease. TFBSs are generally recognized by scanning a position weight matrix (PWM) against DNA using one of a number of available computer programs. Thus we set out to evaluate the best tools that can be used locally (and are therefore suitable for large-scale analyses) for creating PWMs from high-throughput ChIP-Seq data and for scanning them against DNA. Results: We evaluated a set of de novo motif discovery tools that could be downloaded and installed locally using ENCODE-ChIP-Seq data and showed that rGADEM was the best performing tool. TFBS prediction tools used to scan PWMs against DNA fall into two classes — those that predict individual TFBSs and those that identify clusters. Our evaluation showed that FIMO and MCAST performed best respectively. Conclusions: Selection of the best-performing tools for generating PWMs from ChIP-Seq data and for scanning PWMs against DNA has the potential to improve prediction of precise transcription factor binding sites within regions identified by ChIP-Seq experiments for gene finding, understanding regulation and in evaluating the effects of single nucleotide variations in causing disease

Structural impact of SNPs

The simplest form of mutation is a single DNA base change, frequently referred to as a “single nucleotide polymorphism” (SNP). Strictly, this term should only be applied to single base changes that are observed in at least 1% of a “normal” population. However, it is frequently used to refer to any single base mutation and is used in that context here. Many SNPs occur in noncoding regions of DNA, where they may affect transcription, mRNA splicing, or mRNA stability. When a single base change occurs in an exon, it will fall into one of three classes: (1) a “synonymous” mutation which does not change the amino acid sequence of the resultant protein (although this may still affect expression, splicing, or mRNA stability), (2) a “nonsense” mutation resulting in premature termination of the protein sequence, or (3) a “non-synonymous” (or “missense”) mutation (an nsSNP) resulting in a single amino acid change. At the protein level, an nsSNP results in a “single amino acid..

Characterization of pathogenic germline mutations in human Protein Kinases

Background: Protein Kinases are a superfamily of proteins involved in crucial cellular processes such as cell cycle regulation and signal transduction. Accordingly, they play an important role in cancer biology. To contribute to the study of the relation between kinases and disease we compared pathogenic mutations to neutral mutations as an extension to our previous analysis of cancer somatic mutations. First, we analyzed native and mutant proteins in terms of amino acid composition. Secondly, mutations were characterized according to their potential structural effects and finally, we assessed the location of the different classes of polymorphisms with respect to kinase-relevant positions in terms of subfamily specificity, conservation, accessibility and functional sites.Results: Pathogenic Protein Kinase mutations perturb essential aspects of protein function, including disruption of substrate binding and/or effector recognition at family-specific positions. Interestingly these mutations in Protein Kinases display a tendency to avoid structurally relevant positions, what represents a significant difference with respect to the average distribution of pathogenic mutations in other protein families.Conclusions: Disease-associated mutations display sound differences with respect to neutral mutations: several amino acids are specific of each mutation type, different structural properties characterize each class and the distribution of pathogenic mutations within the consensus structure of the Protein Kinase domain is substantially different to that for non-pathogenic mutations. This preferential distribution confirms previous observations about the functional and structural distribution of the controversial cancer driver and passenger somatic mutations and their use as a proxy for the study of the involvement of somatic mutations in cancer development. © 2011 Izarzugaza et al; licensee BioMed Central Ltd