Author: Zhiyu Peng

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Preprints

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

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AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants

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Diagnostic Whole Exome Sequencing in Patients with Short Stature

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Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China

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Noninvasive prenatal diagnosis for Hemophilia A by haplotype-based approach using cell-free fetal DNA in maternal plasma

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Pre-implantation genetic diagnosis for a family with Usher syndrome through targeted sequencing and haplotype analysis

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Noninvasive prenatal test of methylmalonic academia cblC type through targeted sequencing of cell-free DNA in maternal plasma

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Haplotype-Based Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy: A pilot study in South China

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Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy Based on the Direct Haplotype Phasing

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Identification of TTN as a novel candidate gene for atrioventricular block in a Chinese pedigree by whole-exome sequencing

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Impact of ultrasonography on identifying noninvasive prenatal screening false-negative aneuploidy

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