Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

Nucleic acids, including deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), are
natural biopolymers composed of nucleotides that store, transmit, and express genetic …

In order to provide a comprehensive resource for human structural variants (SVs), we
generated long-read sequence data and analyzed SVs for fifteen human genomes. We …

Background Cancer is a heterogeneous disease with many genetic variations. Lines of
evidence have shown copy number variations (CNVs) of certain genes are involved in …

A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

Long-range and highly accurate de novo assembly from short-read data is one of the most
pressing challenges in genomics. Recently, it has been shown that read pairs generated by …

In an effort to more fully understand the full spectrum of human genetic variation, we
generated deep single-molecule, real-time (SMRT) sequencing data from two haploid …

Structural variants (SVs), including small insertion and deletion variants (indels), are
challenging to detect through standard alignment-based variant calling methods. Sequence …

We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …

Comparisons of human genomes show that more base pairs are altered as a result of
structural variation—including copy number variation—than as a result of point mutations …