Mate pair library sequencing is an effective and economical method for detecting genomic structural variants and chromosomal abnormalities. Unfortunately, the mapping and alignment of mate-pair read pairs to a reference genome is a challenging and time-consuming process for most next-generation sequencing alignment programs. Large insert sizes, introduction of library preparation protocol artif...

Advances in medical screening will result in more patients being screened for more conditions over a greater span of their lives. Screening programs must be implemented carefully if they are to be effective and if potentially adverse psychological consequences are to be avoided. Anxiety in patients participating in screening programs can be avoided or reduced by careful attention to patient n...