Yaoshen Wang

Tianjin, 300308, China

Last Updated: 09/26/2026

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Found 12 publications

Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth.

Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth.

Journal: BMC genomics

Published: November 17, 2023

Test development, optimization and validation of a WGS pipeline for genetic disorders.

Test development, optimization and validation of a WGS pipeline for genetic disorders.

Journal: BMC medical genomics

Published: December 08, 2022

Performance characterization of PCR-free whole genome sequencing for clinical diagnosis.

Performance characterization of PCR-free whole genome sequencing for clinical diagnosis.

Journal: Medicine

Published: December 01, 2021

Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.

Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.

Journal: Scientific reports

Published: July 02, 2021

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.

Journal: Genes

Published: January 05, 2021

Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing.

Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing.

Journal: BMC medical genomics

Published: August 21, 2020

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

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

Journal: BMC medical genomics

Published: May 20, 2020

Noninvasive prenatal diagnosis for Duchenne muscular dystrophy based on the direct haplotype phasing.

Noninvasive prenatal diagnosis for Duchenne muscular dystrophy based on the direct haplotype phasing.

Journal: Prenatal diagnosis

Published: July 31, 2019

NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.

NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.

Journal: European journal of human genetics : EJHG

Published: June 07, 2019

Haplotype-Based noninvasive prenatal diagnosis for duchenne muscular dystrophy: A pilot study in South China.

Haplotype-Based noninvasive prenatal diagnosis for duchenne muscular dystrophy: A pilot study in South China.

Journal: European journal of obstetrics, gynecology, and reproductive biology

Published: February 15, 2019

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.

Journal: Prenatal diagnosis

Published: December 04, 2018

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

Journal: European journal of human genetics : EJHG

Published: February 15, 2018

Showing 1-12 of 12

Last Updated: 09/26/2026