EGAGenomicsHiSeq X TenWhole Genome Sequencinghttps://ega-archive.org/studies/EGAS00001001323EGAEGA study EGAS00001001323Whole Genome Sequencing of JK FamilyEGArestrictedFamily Members, Networks, Life Cycles, Complete, Complete Genome, Whole Genome, Family Member, Kinship Network, Kinship, Family Research, Research, Families, Whole, Complete Genome Sequencing, Genome Sequencing, Life Cycle, Family Life Cycle., Kinship Networks, Network, Family Life Cycles, Family, Filiation, Relatives, SequencingVisceral Fat, Networks, White Adipose, SCARB3, Intra-Abdominal Adipose Tissue, BODYFAT, CT11259, Family Member, Kinship, Complete Exome, GPIIIB, l(2)ft, Network, fat, hFat1, BDPLT10, Dm Fat, Abdominal Visceral, jecur, Status, Intra-Abdominal, CDHF7, PAS-4, Scarb3, Life Cycle, Family Life Cycle., CG3352, Whole Transcriptome, Transcriptome Sequencing, Parenthood Status, Visceral Adipose Tissue, Cph1, GP3B, Stepparents, intra-abdominal fat, fat tissue, neck (volume), abdominal fat, WES, Complete, Exome Sequencings, Whole Genome, Kinship Network, adipose system, Research, Complete Exome Sequencing, Whole Transcriptome Sequencing, Tissue, Complete Genome Sequencing, iecur, 79/18, elevated, Abdominal Visceral Fat, CG1945, Fatty acid translocase, Sequencing, Whole Exome, pedicle, intra-abdominal adipose tissue, Abdominal Visceral Fats, GP4, Ages, Clients, Whole, Glycoprotein IIIb, bodyfat, Retroperitoneal Adipose Tissue, Kinship Networks, Family Life Cycles, Family, high elevation, CPH, textus adiposus albus, Retroperitoneal, DmelCG3352, Retroperitoneal Fat, Visceral, l(2)gd-1, Complete Exome Sequencings, BcDNA:LD22582, Family Research, R74677, Abdominal Adipose Tissue, Step Parents, Exome, Parental, Genome Sequencing, BcDNA.LD22582, l(2)gd2, CD36, Stepparent, Client, ME5, Intra Abdominal Fat, visceral adipose tissue, Family Members, Parenthood, Exome Sequencing, Intra-Abdominal Fats, Body Fat, Platelet glycoprotein IV, Complete Genome, PASIV, Visceral Fats, Intra Abdominal Adipose Tissue, Necks, Step-Parents, organ fat, Step-Parent, PAS IV, Filiation, collum, Fats, Cph-1, l(2)k07918, CDHR8, Platelet collagen receptor, Intra Abdominal, Complete Transcriptome, Parent, Leukocyte differentiation antigen CD36, Complete Transcriptome Sequencing, Parental Age, CHDS7, l(2)gd-l, Parental Ages, patient, White Adipose Tissue, White Fat, Adipose Tissue, visceral fat, Age, Phenotypes, Livers, Life Cycles, Abdominal Fats, l(2)fd, Patient, fatty depot, adipose, Faf, Families, Abdominal, DmelCG1945, Ft, Whole Exome Sequencing, Thrombospondin receptor, l(2)fat, l(2)24Da, White, Retroperitoneal Fats, GPIV, Fat, FAT, Transcriptome Sequencings, Relatives, l(2)79/18falseWhole Genome Sequencing of JK FamilyIn 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.2017-07-26 15:39:27EGAS000010013239606EGAD00001002227EGAC00001000205