There is great potential for genome sequencing to enhance patient care through improved
diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential …

High-throughput techniques based on restriction site-associated DNA sequencing (RADseq)
are enabling the low-cost discovery and genotyping of thousands of genetic markers for any …

Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …

The complete assembly of each human chromosome is essential for understanding human
biology and evolution,. Here we use complementary long-read sequencing technologies to …

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 …

Assembling a plant genome is challenging due to the abundance of repetitive sequences,
yet no standard is available to evaluate the assembly of repeat space. LTR retrotransposons …

The human reference genome assembly plays a central role in nearly all aspects of today's
basic and clinical research. GRCh38 is the first coordinate-changing assembly update since …

Although DNA and RNA sequencing has a history spanning five decades, large-scale
massively parallel sequencing, or next-generation sequencing (NGS), has only been …

The term next-generation sequencing is almost a decade old, but it remains the colloquial
way to describe highly parallel or high-output sequencing methods that produce data at or …

Recent advances in the field of genomics have largely been due to the ability to sequence
DNA at increasing throughput and decreasing cost. DNA sequencing was first introduced in …