9b - Emerging Technologies

Question 1

Exome sequencing

Answer 1

1. Fragment and hybridise to nimblegen capture array
2. Ellute
3. 454 Sequencing
4. Analyse exon sequences

Question 2

Fetal Akinesia

Answer 2

• Rare group of disorders with clinical/phenotypic heterogeneity
• Occurs in utero
• Decreased foetal movement and intrauterine growth restriction
• Autosomal dominant, recessive and X linked forms
• Many genes involved