Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

Chong’s study, “Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak,” was recently published in Nature Communications. UAB researchers have developed a ...

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 ...

This important study, which tackles the challenge of analyzing genome integrity and instability in unicellular pathogens by introducing a novel single-cell genomics approach, presents compelling ...

In a recent study published in the journal Nature, researchers investigated the previously underrepresented genomic diversity of four Aboriginal Australian communities. They used population-scale ...

Uncovering how rare genetic changes disrupt brain signaling and structure, this landmark study sheds new light on the roots of schizophrenia and opens doors for future therapies. Study: Whole-exome ...