EGAS00001001323-sc-20160629 - samples
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https://www.omicsdi.org/dataset/ega/EGAD00001002227
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资源简介：
In collaboration with Dr David Savage, we have identified a patient with a very unusual
phenotype, lacking almost all visceral fat, but showing a massive accumulation of white fat
tissue behind her neck and significantly elevated liver fat.
Whole exome sequencing of the proband and her unaffected parents and brother has been
run previously, however no causative variant has been found and the sequencing coverage
was generally poor. We propose to conduct whole genome sequencing of all 4 family
members at a depth of 30X.EGA dataset EGAD00001002227
创建时间：
2017-07-26
