The amount of genetic variation discovered in human populations is growing rapidly leading
to challenging computational tasks, such as variant calling. Standard methods for …

Complementary to reference-based variant detection, recent studies revealed that many
novel variants could be detected with de novo assembled genomes. To evaluate the effect of …

While the discovery of structural variants in the human population is ongoing, most methods
for this task assume that the genome is sequenced to high coverage (eg 40x), and use the …

De novo genetic variants are an important source of causative variation in complex genetic
disorders. Many methods for variant discovery rely on mapping reads to a reference …

Motivation: Whole-genome sequencing (WGS) is now routinely used for the detection and
identification of genetic variants, particularly single nucleotide polymorphisms (SNPs) in …

Comprehensive disease gene discovery in both common and rare diseases will require the
efficient and accurate detection of all classes of genetic variation across tens to hundreds of …

Insertions and deletions (indels) in human genomes are associated with a wide range of
phenotypes, including various clinical disorders. High-throughput, next generation …

Motivation Genotyping a set of variants from a database is an important step for identifying
known genetic traits and disease-related variants within an individual. The growing size of …

Accurately identifying DNA polymorphisms can bridge the gap between phenotypes and
genotypes and is essential for molecular marker assisted genetic studies. Genome …

Background Recent advances in long-read sequencing technologies have enabled
accurate identification of all genetic variants in individuals or cells; this procedure is known …