Search details
1.
Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth.
BMC Genomics
; 25(1): 470, 2024 May 14.
Article
in English
| MEDLINE | ID: mdl-38745141
2.
Endoscopic ultrasound avoids adverse events in high probability choledocholithiasis patients with a negative computed tomography.
BMC Gastroenterol
; 22(1): 94, 2022 Mar 03.
Article
in English
| MEDLINE | ID: mdl-35241000
3.
Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.
Prenat Diagn
; 40(3): 324-332, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31697851
4.
Noninvasive prenatal diagnosis for Duchenne muscular dystrophy based on the direct haplotype phasing.
Prenat Diagn
; 40(8): 918-924, 2020 07.
Article
in English
| MEDLINE | ID: mdl-31916613
5.
Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs.
BMC Med Genomics
; 16(1): 294, 2023 11 17.
Article
in English
| MEDLINE | ID: mdl-37978521
6.
Test development, optimization and validation of a WGS pipeline for genetic disorders.
BMC Med Genomics
; 16(1): 74, 2023 04 05.
Article
in English
| MEDLINE | ID: mdl-37020281
7.
Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.
Sci Rep
; 12(1): 223, 2022 01 07.
Article
in English
| MEDLINE | ID: mdl-34997153
8.
Performance characterization of PCR-free whole genome sequencing for clinical diagnosis.
Medicine (Baltimore)
; 101(10): e28972, 2022 Mar 11.
Article
in English
| MEDLINE | ID: mdl-35451387
9.
Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing.
BMC Med Genomics
; 14(1): 244, 2021 10 09.
Article
in English
| MEDLINE | ID: mdl-34627256
10.
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.
BMC Med Genomics
; 14(1): 102, 2021 04 13.
Article
in English
| MEDLINE | ID: mdl-33849535
11.
Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.
Genes (Basel)
; 12(3)2021 03 06.
Article
in English
| MEDLINE | ID: mdl-33800913
12.
NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.
Eur J Hum Genet
; 29(1): 194-204, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32884118
13.
Noninvasive prenatal testing of α-thalassemia and ß-thalassemia through population-based parental haplotyping.
Genome Med
; 13(1): 18, 2021 02 05.
Article
in English
| MEDLINE | ID: mdl-33546747
14.
Haplotype-Based noninvasive prenatal diagnosis for duchenne muscular dystrophy: A pilot study in South China.
Eur J Obstet Gynecol Reprod Biol
; 240: 15-22, 2019 Sep.
Article
in English
| MEDLINE | ID: mdl-31207536
15.
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Eur J Hum Genet
; 27(2): 254-262, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30275481
16.
Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma.
Sci Rep
; 8(1): 161, 2018 01 09.
Article
in English
| MEDLINE | ID: mdl-29317692
17.
A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood.
Genet Test Mol Biomarkers
; 21(7): 433-439, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-28537755
18.
Noninvasive prenatal diagnosis for X-linked disease by maternal plasma sequencing in a family of Hemophilia B.
Taiwan J Obstet Gynecol
; 56(5): 686-690, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-29037559
19.
Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA.
Sci Rep
; 7(1): 7427, 2017 08 07.
Article
in English
| MEDLINE | ID: mdl-28785026
20.
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.
PLoS One
; 11(7): e0159355, 2016.
Article
in English
| MEDLINE | ID: mdl-27433940