The ambition of precision medicine is to design and optimize the pathway for diagnosis,
therapeutic intervention, and prognosis by using large multidimensional biological datasets …

Determination of haplotype phase is becoming increasingly important as we enter the era of
large-scale sequencing because many of its applications, such as imputing low-frequency …

Many tools have been developed for haplotype assembly—the reconstruction of individual
haplotypes using reads mapped to a reference genome sequence. Due to increasing …

Cell-free fetal DNA is present in the plasma of pregnant women. It consists of short DNA
fragments among primarily maternally derived DNA fragments. We sequenced a maternal …

Read-based phasing allows to reconstruct the haplotype structure of a sample purely from
sequencing reads. While phasing is a required step for answering questions about …

Haplotype-resolved genome sequencing enables the accurate interpretation of medically
relevant genetic variation, deep inferences regarding population history and non-invasive …

The human genome is diploid, which requires assigning heterozygous single nucleotide
polymorphisms (SNPs) to the two copies of the genome. The resulting haplotypes, lists of …

Contemporary sequencing studies often ignore the diploid nature of the human genome
because they do not routinely separate or'phase'maternally and paternally derived …

High-throughput DNA sequencing techniques enable time-and cost-effective sequencing of
large portions of the genome. Instead of sequencing and annotating whole genomes, many …

Advances in high-throughput sequencing techniques now allow relatively easy and
affordable sequencing of large portions of the genome, even for nonmodel organisms. Many …