Match!
Stephen Cristiano
Johns Hopkins University
CancerGenomeTargeted therapyGeneticsBiology
8Publications
4H-index
215Citations
What is this?
Publications 9
Newest
#1Stephen Cristiano (Johns Hopkins University)H-Index: 4
#2David J. McKean (Johns Hopkins University)H-Index: 1
Last. Manal M. Hassan (University of Texas MD Anderson Cancer Center)H-Index: 50
view all 24 authors...
Germline copy number variants (CNVs) increase risk for many diseases, yet detection of CNVs and quantifying their contribution to disease risk in large-scale studies is challenging. We developed an approach called CNPBayes to identify latent batch effects, to provide probabilistic estimates of integer copy number across the estimated batches, and to fully integrate the copy number uncertainty in the association model for disease. We demonstrate this approach in a Pancreatic Cancer Case Control s...
Source
#1Stephen Cristiano (Johns Hopkins University)H-Index: 4
#2Alessandro Leal (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 4
Last. Victor E. Velculescu (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 93
view all 36 authors...
Cell-free DNA in the blood provides a non-invasive diagnostic avenue for patients with cancer1. However, characteristics of the origins and molecular features of cell-free DNA are poorly understood. Here we developed an approach to evaluate fragmentation patterns of cell-free DNA across the genome, and found that profiles of healthy individuals reflected nucleosomal patterns of white blood cells, whereas patients with cancer had altered fragmentation profiles. We used this method to analyse the ...
17 CitationsSource
#1Alessandro Leal (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 4
#2Stephen Cristiano (Johns Hopkins University)H-Index: 4
Last. Victor E. Velculescu (Johns Hopkins University)H-Index: 93
view all 20 authors...
3018Background: Analyses of cell-free DNA (cfDNA) in the blood provide a noninvasive diagnostic avenue for patients with cancer. However, cfDNA analyses have largely focused on targeted sequencing ...
Source
#1Jillian Phallen (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 15
#2Alessandro Leal (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 4
Last. Hatim Husain (UCSD: University of California, San Diego)H-Index: 17
view all 20 authors...
With the advent of precision oncology, there is an urgent need to develop improved methods for rapidly detecting responses to targeted therapies. Here, we have developed an ultrasensitive measure of cell-free tumor load using targeted and whole-genome sequencing approaches to assess responses to tyrosine kinase inhibitors in patients with advanced lung cancer. Analyses of 28 patients treated with anti-EGFR or HER2 therapies revealed a bimodal distribution of cell-free circulating tumor DNA (ctDN...
6 CitationsSource
#1Jillian Phallen (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 15
#2Alessandro Leal (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 4
Last. Hatim Husain (UCSD: University of California, San Diego)H-Index: 17
view all 18 authors...
There is an unmet need for improved methods of rapidly identifying responses to targeted therapies. Liquid biopsy approaches have potential as early biomarkers of response based on noninvasive, real-time monitoring of disease burden. We have used the ultrasensitive targeted error correction sequencing (TEC-Seq) approach to analyze 58 cancer driver genes in patients with metastatic non-small cell lung cancer undergoing treatment with targeted tyrosine kinase inhibitors. As a proof-of-principle st...
Source
#1Jillian Phallen (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 15
#2Mark SausenH-Index: 19
Last. Victor E. Velculescu (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 93
view all 37 authors...
Early detection and intervention are likely to be the most effective means for reducing morbidity and mortality of human cancer. However, development of methods for noninvasive detection of early-stage tumors has remained a challenge. We have developed an approach called targeted error correction sequencing (TEC-Seq) that allows ultrasensitive direct evaluation of sequence changes in circulating cell-free DNA using massively parallel sequencing. We have used this approach to examine 58 cancer-re...
178 CitationsSource
#1Mushan Li (Johns Hopkins University)H-Index: 42
#2Jacob Carey (Johns Hopkins University)H-Index: 4
Last. Robert B. Scharpf (Johns Hopkins University)H-Index: 21
view all 10 authors...
1 CitationsSource
#1Jack M. Fu (Johns Hopkins University)H-Index: 2
#2Terri H. Beaty (Johns Hopkins University)H-Index: 65
Last. Robert B. Scharpf (Johns Hopkins University)H-Index: 21
view all 15 authors...
By sequencing the exomes of distantly related individuals in multiplex families, rare mutational and structural changes to coding DNA can be characterized and their relationship to disease risk can be assessed. Recently, several rare single nucleotide variants (SNVs) were associated with an increased risk of nonsyndromic oral cleft, highlighting the importance of rare sequence variants in oral clefts and illustrating the strength of family-based study designs. However, the extent to which rare d...
4 CitationsSource
#1Robert B. Scharpf (Johns Hopkins University)H-Index: 21
#2Lynn Mireles (Johns Hopkins University)H-Index: 1
Last. Wen Hong Linda Kao (Johns Hopkins University)H-Index: 60
view all 14 authors...
Background Hyperuricemia is associated with multiple diseases, including gout, cardiovascular disease, and renal disease. Serum urate is highly heritable, yet association studies of single nucleotide polymorphisms (SNPs) and serum uric acid explain a small fraction of the heritability. Whether copy number polymorphisms (CNPs) contribute to uric acid levels is unknown.
9 CitationsSource
1