Abstract Individuals with Down syndrome (DS) exhibit a higher incidence of congenital heart defects (CHD). The objective of the present study was to investigate ethnicity-specific genetic variants t… [+59233 chars]...
Read moreAbstract Short tandem repeats (STRs) are abundant in the human genome with approximately 300,000 embedded in gene introns, exons, and untranslated regions. High penetrance STR variants cause human d… [+50426 chars]...
Read moreAbstract Hybrid-capture based target enrichment and multiplex PCR methods enhance sequencing efficiency by focusing on specific genomic regions, while struggling to enrich tens of regions spanning h… [+56199 chars]...
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