Next-generation sequencing technologies made it possible to assay the effect of rare variants on complex diseases. As an extension of the “common disease-common variant” paradigm, rare variant studies

NIAID Data Ecosystem90

Frequencies of HLA-C C1 and C2 gene groups in different diseases.

HLA基因多态性

疾病易感性遗传学

AS, ankylosing spondylitis; RA, rheumatoid arthritis; E, endometriosis; KGR, kidney graft rejectors; KGRN, kidney graft non-rejectors; ALL, acute lymphoblastic leukemia; AML, acute myeloid leukemia; C

Figshare2015-12-02 更新60

Cancer Health Assessments Reaching Many

癌症风险评估

临床外显子组测序

The CHARM (Cancer Health Assessment Reaching Many) study will assess the utility of clinical exome sequencing and how it affects care in diverse populations. The study population includes adults at ri

NIAID Data Ecosystem90

Additional file 2: of Secondary findings in 421 whole exome-sequenced Chinese children

临床外显子组测序

儿童遗传变异分析

Sequencing depth and breadth of the overall target region and 59 gene-specific regions. (XLSX 61 kb)

Figshare2024-02-15 更新60