Mary Aksa¹, Junaid Rashid^2,*, Muhammad Wasif Nisar¹, Toqeer Mahmood³, Hyuk-Yoon Kwon⁴, Amir Hussain⁵

CMC-Computers, Materials & Continua, Vol.68, No.3, pp. 3931-3946, 2021, DOI:10.32604/cmc.2021.016081

Abstract Advancements in next-generation sequencer (NGS) platforms have improved NGS sequence data production and reduced the cost involved, which has resulted in the production of a large amount of genome data. The downstream analysis of multiple associated sequences has become a bottleneck for the growing genomic data due to storage and space utilization issues in the domain of bioinformatics. The traditional string-matching algorithms are efficient for small sized data sequences and cannot process large amounts of data for downstream analysis. This study proposes a novel bit-parallelism algorithm called BitmapAligner to overcome the issues faced due to a large number of sequences… More >

Nelly Sabbaghian¹, Maria C. Digilio², Gillian M. Blue^3,4, Timothée Revil⁵, David S. Winlaw^3,4, William D. Foulkes^1,6

Congenital Heart Disease, Vol.13, No.3, pp. 401-406, 2018, DOI:10.1111/chd.12578

Abstract Objective: We previously identified a pathogenic germline DICER1 variant in a child with transposition of the great arteries who was a member of a family with DICER1 syndrome. In view of a report linking DICER1 knockout in murine cardiomyocytes to cardiac outflow defects, we investigated the involvement of DICER1 in transposition of the great arteries.
Design: We used Fluidigm access array followed by next generation sequencing to screen for variants in the coding exons, their exon/intron boundaries and the 30 untranslated region of DICER1 in patient DNA.
Cases: Germline DNA was collected from 129 patients with either sporadic or familial… More >

Tarek A ATIA

BIOCELL, Vol.43, No.4, pp. 253-262, 2019, DOI:10.32604/biocell.2019.08180

Abstract Recurring miscarriage (RM) is a frustrating reproductive complication with variable etiology. Numerous genetic defects have been known to play a crucial role in the etiology of RM. Chromosomal abnormalities are frequently detected, while other genetic defects cannot be diagnosed through routine research, such as cryptic chromosomal anomalies, single nucleotide polymorphism, single-gene defect, and gene copy number variation. Diagnostic laboratories have recently used variable advanced techniques to detect potential genetic abnormalities in couples with RM and/or in products of conception. Here we aim to summarize the known genetic causes of RM, with a focus on the new diagnostic techniques. Knowledge of… More >