Risultati della ricerca - Xuyun Hu
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Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data di Ruen Yao, Cheng Zhang, Tingting Yu, Niu Li, Xuyun Hu, Xiumin Wang, Jian Wang, Yiping Shen
Pubblicazione 2017Artigo -
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Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing count... di Xuyun Hu, Niu Li, Yufei Xu, Guoqiang Li, Tingting Yu, Ruen Yao, Lijun Fu, Jiwen Wang, Lei Yin, Yong Yin, Ying Wang, Xingming Jin, Xiumin Wang, Jian Wang, Yiping Shen
Pubblicazione 2017Artigo
Strumenti per la ricerca:
Soggetti correlati
Biology
Gene
Genetics
Bioinformatics
Exome sequencing
Internal medicine
Medicine
Pediatrics
Aldosterone
Chromosomal inversion
Chromosome
Computational biology
Computer science
Copy-number variation
Diagnostic test
Diuretic
Embryonic stem cell
Endocrinology
Excretion
Exome
Exon
Gene expression
Genetic counseling
Genetic testing
Genome
Homologous recombination
Human genetics
Hypercalciuria
Hypokalemia
Induced pluripotent stem cell