WES of paired gDNAs and PPGL tumor DNA from patients with CCHD-PPGL.

WES of paired germline DNA (12) and PPGL tumor DNA (14) from peripheral blood/saliva and formalin-fixed paraffin-embedded (FFPE) blocks from surgery, respectively, from patients with congenital heart disease (CCHD) and pheochromocytoma and paraganglioma (PPGL).

Type: Exome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000001201	Fastq files from Whole Exome Sequencing of 12 paired germline DNA (from blood/saliva) and 14 PPGL tumor DNA (from formalin-fixed paraffin-embedded (FFPE) blocks from surgery) from patients with cyanotic congenital heart disease (CCHD) and pheochromocytoma and paraganglioma (PPGL). Sequencing was performed using the Illumina HiSeq4000.	Illumina HiSeq 4000	26

Publications	Citations
Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes. Arenillas C, Celada L, Ruiz-Cantador J, Calsina B, Datta D, García-Galea E, Fasani R, Moreno-Cárdenas AB, Alba-Linares JJ, Miranda-Barrio B, Martínez-Montes ÁM, Alvarez-Escola C, Lecumberri B, González García A, K Flores S, Esquivel E, Ding Y, Peitzsch M, Robles-Guirado JÁ, Regojo Zapata RM, Pozo-Kreilinger JJ, Iglesias C, Dwight T, Muir CA, Oleaga A, Garrido-Lestache Rodríguez-Monte ME, Del Cerro MJ, Martínez-Bendayán I, Álvarez-González E, Cubiella T, Lourenço DM, A Pereira MA, Burnichon N, Buffet A, Broberg C, Dickson PV, Fraga MF, Llorente Pendás JL, Rueda Soriano J, Buendía Fuentes F, Toledo SPA, Clifton-Bligh R, Dienstmann R, Villanueva J, Capdevila J, Gimenez-Roqueplo AP, Favier J, Nuciforo P, Young WF, Bechmann N, Opotowsky AR, Vaidya A, Bancos I, Weghorn D, Robledo M, Casteràs A, Dos-Subirà L, Adameyko I, Chiara MD, Dahia PLM, Toledo RA. Cancer Discov 15: 2025 1037-1062	3

Publications

Citations

Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes.
Arenillas C, Celada L, Ruiz-Cantador J, Calsina B, Datta D, García-Galea E, Fasani R, Moreno-Cárdenas AB, Alba-Linares JJ, Miranda-Barrio B, Martínez-Montes ÁM, Alvarez-Escola C, Lecumberri B, González García A, K Flores S, Esquivel E, Ding Y, Peitzsch M, Robles-Guirado JÁ, Regojo Zapata RM, Pozo-Kreilinger JJ, Iglesias C, Dwight T, Muir CA, Oleaga A, Garrido-Lestache Rodríguez-Monte ME, Del Cerro MJ, Martínez-Bendayán I, Álvarez-González E, Cubiella T, Lourenço DM, A Pereira MA, Burnichon N, Buffet A, Broberg C, Dickson PV, Fraga MF, Llorente Pendás JL, Rueda Soriano J, Buendía Fuentes F, Toledo SPA, Clifton-Bligh R, Dienstmann R, Villanueva J, Capdevila J, Gimenez-Roqueplo AP, Favier J, Nuciforo P, Young WF, Bechmann N, Opotowsky AR, Vaidya A, Bancos I, Weghorn D, Robledo M, Casteràs A, Dos-Subirà L, Adameyko I, Chiara MD, Dahia PLM, Toledo RA. Cancer Discov 15: 2025 1037-1062