AbstractMotivation. Accurate genome size estimation is an important component of genomic analyses such as assembly and coverage calculation, though existin

Nature - A newly compiled atlas of species-wide structural variants and gene-based and graph pangenomes derived from highly complete assemblies of genomes from 1,086 natural isolates enable...

Background Structural variants are genomic variants that impact at least 50 nucleotides. Structural variants can play major roles in diversity and human health. Many structural variants are difficult to interpret and understand with existing visualization tools, especially when comprised of inverted sequences or multiple breakend pairs. Results We present SVTopo, a tool to visualize germline structural variants with supporting evidence from high-accuracy long reads in easily understood figures. We include examples of 101 visually complex structural variants from seven unrelated human genomes, manually assigned to ten categories. These demonstrate a broad spectrum of rearrangement and showcase the frequency of complex structural variants in human genomes. Conclusions SVTopo shows breakpoint evidence in ways that aid reasoning about the impact of multi-breakpoint rearrangements. The images created aid human reasoning about the result of structural variation on gene and regulatory regions.

A combination of whole-genome NanoSeq with deep whole-exome and targeted NanoSeq is used to accurately characterize mutation rates and genes under positive selection in sperm cells.

This protocol describes a method for carrying out CUT&Tag-Direct in 96 well microplates for high-throughput processing of samples by a single operator with only standard lab...

A new method enables comprehensive screening and identification of low-affinity DNA binding sites for transcription factors, and reveals that nucleotides flanking high-affinity binding sites create ov...

When genetic interactions matter and when they don't

Expanded centromere DNA repeats violate Mendel’s law of segregation by preferentially segregating to the egg in animals and plants. Using oocytes collected from hybrid mice, Walton et al. show that th...

Multiomics analysis revealed the regulatory elements and transcription factors responsible for gonadal sex determination.

Noncanonical amino acids are efficiently incorporated into proteins by optimizing mRNA codon usage.

Joint profiling of chromatin and splicing in the brain uncovers shared and distinct patterns.

There is a long-standing consensus that the animal phyla closest to our own phylum of Chordata are the Echinodermata and Hemichordata. These three phy…

Ongoing advances in population genomic methodologies have recently enabled the study of millions of loci across hundreds of genomes at a relatively low cost, by leveraging a combination of low-covera...

These graphics will guide you through science-based vaccine guidelines for children and adults