Abstract RNA-sequencing (RNA-seq) has a wide variety of applications, but no single
analysis pipeline can be used in all cases. We review all of the major steps in RNA-seq data …

Next-generation sequencing technologies have revolutionarily advanced sequence-based
research with the advantages of high-throughput, high-sensitivity, and high-speed. RNA-seq …

The completion of a telomere-to-telomere human reference genome, T2T-CHM13, has
resolved complex regions of the genome, including repetitive and homologous regions …

The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …

Characterizing the multifaceted contribution of genetic and epigenetic factors to disease
phenotypes is a major challenge in human genetics and medicine. We carried out high …

RNA sequencing (RNA-Seq) uses the capabilities of high-throughput sequencing methods
to provide insight into the transcriptome of a cell. Compared to previous Sanger sequencing …

When cellular traits are measured using high-throughput DNA sequencing, quantitative trait
loci (QTLs) manifest as fragment count differences between individuals and allelic …

Bulked segregant analysis (BSA) is an efficient method to rapidly and efficiently map genes
responsible for mutant phenotypes. BSA requires access to quantitative genetic markers that …

1 Nature America, Inc. All rights reserv ed. perspective 514 volume 43| number 6| june 2011|
NATURE GENETICS region if a similar association was found in this population, as the …

The identification and isolation of genes underlying quantitative trait loci (QTLs) associated
with agronomic traits in crops have been recently accelerated thanks to next-generation …