Detalhe da pesquisa
1.
Detection of rare mutations, copy number alterations, and methylation in the same template DNA molecules.
Proc Natl Acad Sci U S A
; 120(15): e2220704120, 2023 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37014860
2.
Assessing aneuploidy with repetitive element sequencing.
Proc Natl Acad Sci U S A
; 117(9): 4858-4863, 2020 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32075918
3.
Massively Parallel Sequencing of Esophageal Brushings Enables an Aneuploidy-Based Classification of Patients With Barrett's Esophagus.
Gastroenterology
; 160(6): 2043-2054.e2, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493502
4.
Eliminating accidental deviations to minimize generalization error and maximize replicability: Applications in connectomics and genomics.
PLoS Comput Biol
; 17(9): e1009279, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34529652
5.
Clinically applicable approach for predicting mechanical ventilation in patients with COVID-19.
Br J Anaesth
; 126(3): 578-589, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33454051
6.
Detection of aneuploidy in patients with cancer through amplification of long interspersed nucleotide elements (LINEs).
Proc Natl Acad Sci U S A
; 115(8): 1871-1876, 2018 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29432176
7.
Genetic mutations associated with susceptibility to perioperative complications in a longitudinal biorepository with integrated genomic and electronic health records.
Br J Anaesth
; 125(6): 986-994, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891412
8.
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges.
Hum Mutat
; 38(9): 1266-1276, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544481
9.
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.
Hum Mol Genet
; 24(21): 5995-6002, 2015 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26246501
10.
Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).
Hum Mutat
; 37(1): 28-35, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26442818
11.
A combination of molecular markers and clinical features improve the classification of pancreatic cysts.
Gastroenterology
; 149(6): 1501-10, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26253305
12.
Predicting survival in head and neck squamous cell carcinoma from TP53 mutation.
Hum Genet
; 134(5): 497-507, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25108461
13.
A probabilistic model to predict clinical phenotypic traits from genome sequencing.
PLoS Comput Biol
; 10(9): e1003825, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188385
14.
Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.
Hum Mutat
; 35(10): 1249-59, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25066652
15.
CRAVAT: cancer-related analysis of variants toolkit.
Bioinformatics
; 29(5): 647-8, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23325621
16.
Aneuploidy Landscape in Precursors of Ovarian Cancer.
Clin Cancer Res
; 30(3): 600-615, 2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38048050
17.
Morphologic and Molecular Heterogeneity of High-grade Serous Carcinoma Precursor Lesions.
Am J Surg Pathol
; 48(4): 475-486, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38298022
18.
Machine learning to detect the SINEs of cancer.
Sci Transl Med
; 16(731): eadi3883, 2024 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38266106
19.
Identifying Mendelian disease genes with the variant effect scoring tool.
BMC Genomics
; 14 Suppl 3: S3, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23819870
20.
The Origin of Highly Elevated Cell-Free DNA in Healthy Individuals and Patients with Pancreatic, Colorectal, Lung, or Ovarian Cancer.
Cancer Discov
; 13(10): 2166-2179, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37565753