Exome Sequencing Points to De Novo, Dominant Mutations as the Cause of a Rare, Lethal Disorder
June 01, 2010
Exome Sequencing Points to De Novo, Dominant Mutations as the Cause of a Rare, Lethal Disorder
The team used Agilent's SureSelect and Life Technologies' SOLiD to capture and sequence the exomes of four affected infants, finding heterozygous mutations in the SETBP1 gene that were not present in the parents.
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