Advances in clinical genetic testing, including the introduction of exome sequencing, have
uncovered the molecular etiology for many rare and previously unsolved genetic disorders …

Long-read sequencing technologies substantially overcome the limitations of short-reads
but have not been considered as a feasible replacement for population-scale projects, being …

Studies have demonstrated that structural variants (SV) play a substantial role in the
evolution of species and have an impact on Mendelian traits in the genome. However, unlike …

Long-read sequencing technology has enabled variant detection in difficult-to-map regions
of the genome and enabled rapid genetic diagnosis in clinical settings. Rapidly evolving …

Less than half of individuals with a suspected Mendelian condition receive a precise
molecular diagnosis after comprehensive clinical genetic testing. Improvements in data …

Rapid genetic testing in the critical care setting enables targeted evaluations, directs
therapies, and helps families and care providers make informed decisions about goals of …

Pallas's cat, or the manul cat (Otocolobus manul), is a small felid native to the grasslands
and steppes of central Asia. Population strongholds in Mongolia and China face growing …

The assignment of variants across haplotypes, phasing, is crucial for predicting the
consequences, interaction, and inheritance of mutations and is a key step in improving our …

Motivation In diploid organisms, phasing is the problem of assigning the alleles at
heterozygous variants to one of two haplotypes. Reads from PacBio HiFi sequencing …

Motivation Diploid assembly, or determining sequences of homologous chromosomes
separately, is essential to elucidate genetic differences between haplotypes. One approach …