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Homozygosity mapping and exome sequencingidentify a new disease gene• Exome sequencing yields 30-50,000 variants per individual• A need for an appropriate filtering strategy• In region of homozygosity: focus on the 2480 genes• <strong>Rare</strong> or novel• Pathogenic: missense, stop, splicing, frameshift• This approach reduced the number of candidate genes from 2480to 6!• A stop codon in the glycosyltransferase GTDC2 appeared to bethe best candidate (Manzini et al, 2012)
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Page 1 and 2: Exome sequencing and functional val
Page 3 and 4: Dystroglycanopathies are extremely
Page 5 and 6: Homozygosity mapping provides linka
Page 7: Homozygosity mapping in a dystrogly
Page 11 and 12: gtdc2 loss of function severely aff
Page 13 and 14: Human GTDC2 mRNA rescues the morpha
Page 15 and 16: B3GALNT2 is another new dystroglyca
Page 17 and 18: Chris WalshMuna Al SaffarBrenda Bar
Page 19 and 20: GTDC2 is expressed in the brain and
Page 21 and 22: gtdc2 mRNA is highly expressed in t
Page 23 and 24: gtdc2 loss of function disrupts org
Page 25 and 26: Post-doctoral positions availableMa
Page 27 and 28: How do you approach a heterogeneous

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