Common characteristics of open source software development and applicability for drug discovery: a systematic review

<p>Abstract</p> <p>Background</p> <p>Innovation through an open source model has proven to be successful for software development. This success has led many to speculate if open source can be applied to other industries with similar success. We attempt to provide an understanding of open source software development characteristics for researchers, business leaders and government officials who may be interested in utilizing open source innovation in other contexts and with an emphasis on drug discovery.</p> <p>Methods</p> <p>A systematic review was performed by searching relevant, multidisciplinary databases to extract empirical research regarding the common characteristics and barriers of initiating and maintaining an open source software development project.</p> <p>Results</p> <p>Common characteristics to open source software development pertinent to open source drug discovery were extracted. The characteristics were then grouped into the areas of participant attraction, management of volunteers, control mechanisms, legal framework and physical constraints. Lastly, their applicability to drug discovery was examined.</p> <p>Conclusions</p> <p>We believe that the open source model is viable for drug discovery, although it is unlikely that it will exactly follow the form used in software development. Hybrids will likely develop that suit the unique characteristics of drug discovery. We suggest potential motivations for organizations to join an open source drug discovery project. We also examine specific differences between software and medicines, specifically how the need for laboratories and physical goods will impact the model as well as the effect of patents.</p

Mutation in the beta-myosin heavy chain (β-MHC) gene of adult Bangladeshi patients with hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is the most prevalent genetic cardiomyopathy characterized by sudden cardiac death. HCM is caused by the mutation in several genes that encode sarcomere proteins. Beta-Myosin Heavy Chain (β-MHC) gene is the one of the most mutated genes responsible for HCM. Studies on mutation spectrum of β-MHC gene are lacking in the Asian population including Bangladeshi patients. This study was intended to mutational analysis of β-MHC gene in Bangladeshi HCM patients. A cross-sectional study was conducted for mutation analysis of the β-MHC gene on 70 Bengali Bangladeshi HCM probands using nextgeneration sequencing at the Genetic Research Lab of Bangabandhu Sheikh Mujib Medical University. Structural and functional impact of the mutations were further analyzed by in-silico process. Thirty-nine nucleotide variants were found in both exonic (36%, n= 14) and intronic regions (64%, n=25) of β-MHC gene. We found 14 missense mutations, including the p.Glu965Lys, p.Arg941Pro, p.Lys940Met, p.Glu935Lys, and p.Met922Lys that are associated with inherited HCM. Most variants were heterozygous and one homozygous (p.Val919Leu) was found. The variant with most evidence of causing the disease was p.Glu935Lys. Among the missense variants, nine were not noted in ClinVar, dbSNP, GenomeAD databases. These unreported variants located between myosin head and tail domains might be novel mutations for Bangladeshi population. We found nine novel variants in the β-MHC gene. Findings of this research will help to developing a genetic database of HCM for early diagnosis and proper management of HCM patients in Bangladesh. Bangabandhu Sheikh Mujib Medical University Journal 2022;15(4):2-

The genome of the Black Bengal goat (Capra hircus)

OBJECTIVES: Black Bengal goat (Capra hircus), a member of the Bovidae family with the unique traits of high prolificacy, skin quality and low demand for food is the most socioeconomically significant goat breed in Bangladesh. Furthermore, the aptitude of adaptation and disease resistance capacity of it is highly notable which makes its whole genome information an area of research interest.DATA DESCRIPTION: The genomic DNA of a local (Chattogram, Bangladesh) healthy male Black Bengal goat (Capra hircus) was extracted and then sequenced. Sequencing was completed using the Illumina HiSeq 2500 sequencing platform and the draft assembly was generated using the ARS1 genome as the reference. MAKER gene annotation pipeline was utilized to annotate 26,458 gene models. Genome completeness was assessed using BUSCO (Benchmarking Universal Single-Copy Orthologs) which showed 82.5% completeness of the assembled genome