Genomic structural variants (SVs) are abundant in humans, differing from other forms of
variation in extent, origin and functional impact. Despite progress in SV characterization, the …

… d) Overlap between detection methods for reference MEI. Of the 23 1000GP deletion call
sets, 11 … d) Venn diagram of reference MEI from each pilot dataset. e) Venn diagram of non-…

… d, Example of an alignment that causes a false positive SNP due to misalignment against
the linear reference genome. This sample has a homozygous deletion in this region, and …

… D, The interactive Case Explorer allows users to visualize and select cases based on type
… D, The interactive Case Explorer allows users to visualize and select cases based on type of …

Background There is tremendous potential for genome sequencing to improve clinical diagnosis
and care once it becomes routinely accessible, but this will require formalizing research …

There is increasing recognition that a single, monoploid reference genome is a poor universal
reference structure for human genetics, because it represents only a tiny fraction of human …

Aims: To compare the effects of 2 and 5 min of passive static stretching (SS) on stiffness and
blood flow in the rectus femoris in adolescent athletes using shear wave elastography (SWE…

… D.The workflow is completed when the output of the final tool (WBO, value3) is curried to
the overall workflow output (WO). The port counters allow the engine to track when nodes are …

Objectives: This study assessed the level of knowledge, attitudes, and awareness of child
abuse and neglect (CAN) among dentists. Study design: The sample, consisted of 20,298 …

Motivation Several tools exist to count Mendelian violations in family trios by comparing
variants at the same genomic positions. This naive variant comparison, however, fails to assess …