Paper 1 extra information (Davenport et al.)

Question 1

• The move from allelic to sequenced based methodologies has highlighted the extent to which previous allelic variation was masked
• Flanking region sequences are complex
• Polymorphisms are increased when using flanking regions
• MiSeq validation: reliable and robust, Existing extraction and quantification methods can still be used, a sample of <1ng will still give a profile which is either partial or full
• MPS: most of the problematic issues have been solved since its development, allows for all nucleic acids to be sequenced, error rate of 0.5%-15%, INDELS are the most common error in Ion PGM, flaking regions surround STRs, able to predict stutter behaviour more accurately, doesnt need to separate via amplicon size which is better for degraded DNA, can link to benefits of RNA and body fluid identification and DNA/RNA co-extraction, Minion portable NGS technology, can be used via direct amplification