… sample is particularly important in population genetic and evolutionary studies, in which
population size estimation and measures of genetic differentiation (such as the fixation index F …

Recent research into structural variants (SVs) has established their importance to medicine
and molecular biology, elucidating their role in various diseases, regulation of gene …

… f | The contigs are ordered and oriented using other long-range information (such as
linked reads, Hi-C or optical maps) into a scaffold, although some portions may remain as …

Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …

… Lohr Vineyards and Wines to DC We would also like to thank F. Neto for providing an
early-release BUSCO plant data set. Clavicorona pyxidata DNA was provided by L. …

Structural variations are the greatest source of genetic variation, but they remain poorly
understood because of technological limitations. Single-molecule long-read sequencing has the …

The DNA sequencing technologies in use today produce either highly accurate short reads
or less-accurate long reads. We report the optimization of circular consensus sequencing (…

… Fritz J Sedlazeck , Fritz J Sedlazeck … Gregory W Vurture, Fritz J Sedlazeck, Maria Nattestad,
Charles J Underwood, Han Fang, James Gurtowski, Michael C Schatz, GenomeScope: fast …

… Additional examples are presented in Figure S4F. p values and expression fold changes are
computed across two groups of accessions (with and without the indicated SV). Data shown …

… We fed these alignments into samtools view with options -F 260 -u- and then samtools sort
with option -m. We then scanned 100 basepair windows of GRCh38 to find windows where all …