Human genomes frequently mutate through duplication and deletion, leading to copy number variation. Roughly 10% of protein-coding genes have shown copy number variation, with distinct distributions ...
A recent large cohort study, conducted jointly by researchers from BGI Genomics and Nanjing Women and Children's Healthcare Hospital, implemented a self-developed prenatal screening strategy to ...
Non-invasive prenatal testing (NIPT) is a screening method that detects fetal chromosomal trisomies from cell-free DNA in maternal blood. Because NIPT uses whole-genome sequencing with next-generation ...
A new study challenges the conventional wisdom surrounding genome stability within closely related organisms and sheds new light on the mechanisms underlying extensive genome size variation. Our ...
Copy number variation (CNV) refers to an increase or decrease in the number of copies of a DNA sequence in a genome, which can subsequently be implicit in promoting aberrant gene expression patterns ...
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