Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.
Gene dysregulation is a hallmark of disease, driving pathogenic phenotypes and poor patient outcomes. RNA binding proteins are often important human gene effectors, controlling RNA synthesis, ...
Automated detection of metallophore biosynthesis reveals that metal-chelating non-ribosomal peptides are widespread, chemically diverse, and deeply rooted in bacterial evolution.
Advanced genome sequencing is uncovering hidden autism gene variants, opening new possibilities for earlier diagnosis and future targeted therapies.
Long-read genome sequencing reveals autism gene variants and structural changes, helping explain missing heritability and advancing precision diagnostics.
Figure 4. Structural effects of a single frameshift homozygous nucleotide deletion in the SPAG9/JIP4 gene. Representation of the three-dimensional model in tapes. (A) Region of the SPAG9wt protein ...
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