Detalhe da pesquisa
1.
Establishing national reference materials for genetic testing of cytochrome P450.
Pharmacogenet Genomics
; 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38640061
2.
Nanopore Third-Generation Sequencing for Comprehensive Analysis of Hemoglobinopathy Variants.
Clin Chem
; 69(9): 1062-1071, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37311260
3.
Comprehensive evaluation of BRCA1/2 variant interpretation ability among laboratories in China.
J Med Genet
; 59(3): 230-236, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33397747
4.
Harmonization of distributed multi-center analysis based on dried blood spot reference materials supporting the screening of neonatal inherited metabolic disorders.
J Clin Lab Anal
; 37(19-20): e24970, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37837220
5.
Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile.
J Transl Med
; 20(1): 536, 2022 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401256
6.
Simulated confined placental mosaicism proportion (SCPMP) based on cell-free fetal DNA fraction enrichment can reduce false-positive results in non-invasive prenatal testing.
Prenat Diagn
; 42(8): 1008-1014, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35441712
7.
The Setup and Application of Reference Material in Sequencing-Based Noninvasive Prenatal Testing.
Gynecol Obstet Invest
; 86(1-2): 123-131, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33784691
8.
[Study on Proficiency Testing of Determination Potassium in Serum].
Zhongguo Yi Liao Qi Xie Za Zhi
; 45(2): 219-223, 2021 Apr 08.
Artigo
em Chinês
| MEDLINE | ID: mdl-33825386
9.
[The Quality Analysis of National Supervising Sampling for Rubella Virus IgM Diagnostic Kits in 2014].
Zhongguo Yi Liao Qi Xie Za Zhi
; 39(4): 282-4, 2015 Jul.
Artigo
em Chinês
| MEDLINE | ID: mdl-26665951
10.
Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing.
BMC Med Genomics
; 17(1): 33, 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38262988
11.
Restriction endonuclease-mediated real-time digestion-PCR for somatic mutation detection.
Int J Cancer
; 132(12): 2858-66, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23180674
12.
Development and characterization of reference materials for EGFR, KRAS, NRAS, BRAF, PIK3CA, ALK, and MET genetic testing.
Technol Health Care
; 31(2): 485-495, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36093718
13.
Robust Benchmark Structural Variant Calls of An Asian Using State-of-the-art Long-read Sequencing Technologies.
Genomics Proteomics Bioinformatics
; 20(1): 192-204, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33662625
14.
A comparison of matrix-assisted laser desorption/ionization time-of-flight mass spectrometry and surface plasmon resonance for genotyping of high-risk human papillomaviruses.
Intervirology
; 54(6): 326-32, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21242664
15.
BDdb: a comprehensive platform for exploration and utilization of birth defect multi-omics data.
BMC Med Genomics
; 14(1): 260, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34736471
16.
Construction of a reference material panel for detecting KRAS/NRAS/EGFR/BRAF/MET mutations in plasma ctDNA.
J Clin Pathol
; 74(5): 314-320, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817175
17.
A Deep-Learning Pipeline for TSS Coverage Imputation From Shallow Cell-Free DNA Sequencing.
Front Med (Lausanne)
; 8: 684238, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34926480
18.
Influence of low tumor content on tumor mutational burden estimation by whole-exome sequencing and targeted panel sequencing.
Clin Transl Med
; 11(5): e415, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34047470
19.
Detection of chromosomal abnormalities in spontaneous miscarriage by lowcoverage nextgeneration sequencing.
Mol Med Rep
; 22(2): 1269-1276, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32626971
20.
Development of a genomic DNA reference material panel for thalassemia genetic testing.
Int J Lab Hematol
; 42(5): 510-517, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32297451