Detalhe da pesquisa
1.
Effect of preexamination conditions in a centralized-testing model of non-invasive prenatal screening.
Clin Chem Lab Med
; 60(2): 183-190, 2022 01 27.
Artigo
Inglês
| MEDLINE | ID: mdl-34761647
2.
Barnacle: detecting and characterizing tandem duplications and fusions in transcriptome assemblies.
BMC Genomics
; 14: 550, 2013 Aug 14.
Artigo
Inglês
| MEDLINE | ID: mdl-23941359
3.
Dissect: detection and characterization of novel structural alterations in transcribed sequences.
Bioinformatics
; 28(12): i179-87, 2012 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22689759
4.
Characterizing the KRAS G12C mutation in metastatic colorectal cancer: a population-based cohort and assessment of expression differences in The Cancer Genome Atlas.
Ther Adv Med Oncol
; 14: 17588359221097940, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35694189
5.
Assessing Limit of Detection in Clinical Sequencing.
J Mol Diagn
; 23(4): 455-466, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33486075
6.
Use of Treatment-Focused Tumor Sequencing to Screen for Germline Cancer Predisposition.
J Mol Diagn
; 23(9): 1145-1158, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34197922
7.
A clinical transcriptome approach to patient stratification and therapy selection in acute myeloid leukemia.
Nat Commun
; 12(1): 2474, 2021 04 30.
Artigo
Inglês
| MEDLINE | ID: mdl-33931648
8.
Sample Tracking Using Unique Sequence Controls.
J Mol Diagn
; 22(2): 141-146, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31837431
9.
Population-based Screening for BRAF V600E in Metastatic Colorectal Cancer Reveals Increased Prevalence and Poor Prognosis.
Clin Cancer Res
; 26(17): 4599-4605, 2020 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32571791
10.
Fixation Effects on Variant Calling in a Clinical Resequencing Panel.
J Mol Diagn
; 21(4): 705-717, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31055024
11.
Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study.
Eur J Hum Genet
; 27(11): 1701-1715, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31231136
12.
Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values.
Clin Biochem
; 59: 69-77, 2018 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-29958880