The need for a detailed catalogue of local variability for the study of rare diseases within the context of the Medical Genome Project motivated the whole exome sequencing of 267 unrelated individuals

NIAID Data Ecosystem60

ena-DATASET-UCAM-GEL-21-07-2021-09:57:58:339-353 - samples

罕见病基因组学

心血管遗传变异分析

Short read whole genome sequencing (WGS) VCF files for the NIHR BioResource Rare Diseases WGS project Ã¢Â€Â“ Participants from the Hypertrophic Cardiomyopathy (HCM) Rare Disease domainEGA dataset EGAD

NIAID Data Ecosystem40

Clinic pathological characteristics of the study population.

肿瘤病理学

淋巴系统疾病

11973 WHO classification, 2 Node status unknown, 3 Lymphovascular invasion, 4 No evident disease.

NIAID Data Ecosystem60

uk10k_rare_findwg-rel-2013-03-06-sc-20140327 - samples

罕见遗传变异全基因组测序

罕见病基因组学

UK10K_RARE_FINDWG REL-2013-03-06EGA dataset EGAD00001000803

NIAID Data Ecosystem50