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Next-generation sequencing refers to non-Sanger-based high-throughput DNA sequencing technologies. Millions or billions of DNA strands can be sequenced in parallel, yielding substantially more throughput and minimizing the need for the fragment-cloning methods that are often used in Sanger sequencing of genomes.
Exome-sequencing analysis in a Chinese cohort of 1,578 children with cerebral palsy established a genetic etiology in 387 of the patients (24.5%). Children with cerebral palsy for whom perinatal asphyxia had been recorded at birth were found to be more likely to carry pathogenic or potentially pathogenic variants.
BARseq interrogates the expression of 104 cell-type marker genes in 10.3 million cells over nine mouse forebrain hemispheres to reveal the role of peripheral inputs on cortical area development.
Exome-sequencing analysis in a Chinese cohort of 1,578 children with cerebral palsy established a genetic etiology in 387 of the patients (24.5%). Children with cerebral palsy for whom perinatal asphyxia had been recorded at birth were found to be more likely to carry pathogenic or potentially pathogenic variants.
The discovery of antibodies that bind with high affinity to clinically relevant antigens can be sped up by leveraging next-generation sequencing to screen hundreds of millions of antibody–antigen interactions.
A trimodal single-cell assay reveals a previously unknown T cell subset and cellular state differences between children and older adults that might contribute to age-specific immunity.
Whole genome sequencing has enabled new insights into the genetic architecture of complex traits, especially through access to low-frequency and rare variation. This Comment highlights the key contributions from this technology and discusses considerations for its use and future perspectives.