This table shows the comparison of multiple tools and platforms that can be used for doing variant annotation, prioritization and clinical genome analysis.

NIAID Data Ecosystem50

Additional file 1: Table S1. of Shifting patterns of genomic variation in the somatic evolution of papillary thyroid carcinoma

甲状腺乳头状癌体细胞变异

临床基因组

Shows Patient Demographic and Clinical Information. (XLSX 12Â kb)

Figshare2016-12-15 更新40

Complex IV activity in nmol / min per mg protein in fibroblasts and clinical symptoms of patients.

线粒体疾病诊断

酶活性临床关联

Complex IV activity in nmol / min per mg protein in fibroblasts and clinical symptoms of patients.

Figshare2017-10-24 更新60

Residual enzyme activities of mitochondrial respiratory chain complexes in different tissues from the index patient.

线粒体呼吸链功能测定

线粒体疾病诊断

Enzyme activities are expressed as*cU/U citrate synthase (CS) and**nmol.min−1.mg prot−1. CS activity is expressed as mU/mg protein. Abnormal values are indicated in bold. nd, not determined. Complex I

Figshare2015-12-02 更新40

Mitochondrial Genome sequencing for clinical diagnosis. Homo sapiens

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