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Whole Genome Sequencing of Corpasome Aunt

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posted on 2017-09-01, 15:28 authored by Manuel CorpasManuel Corpas
Genomic DNA from hair roots of my deceased Aunt was purified, fragmented and its DNA library prepared and sequenced on a Illumina HiSeq with a sequencing configuration of 2×150 paired ends (PE).

To our knowledge, this is the first time a Direct-to-consumer experiment is conducted to sequence the genome of a dead relative. The purpose of this study includes:

- To diagnose my Aunt’s likely genome mutations that might have contributed to her demise, a melanoma which took her 4 years ago
- To understand how the genome of the dead can inform those of the living

In terms of the consent to perform this experiment, she already performed a 23andMe test which she consented to put online and research has been performed on this dataset.

In addition, the sample from which the DNA was purified, 36 hairs from a comb of hers, was provided with the consent from her next of kin, my uncle, who gave the sample for her sequencing.

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Private Direct-to-Consumer (DTC)

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