相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Tissue and serum metabolomic phenotyping for diagnosis and prognosis of hepatocellular carcinoma
Jun Han et al.
INTERNATIONAL JOURNAL OF CANCER (2020)
Targeted Sequencing of Genomic Repeat Regions Detects Circulating Cell-free Echinococcus DNA
Zhengqing Wan et al.
PLOS NEGLECTED TROPICAL DISEASES (2020)
Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour
Amy Gerrish et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2019)
Bayesian-based noninvasive prenatal diagnosis of single-gene disorders
Tom Rabinowitz et al.
GENOME RESEARCH (2019)
Orientation-aware plasma cell-free DNA fragmentation analysis in open chromatin regions informs tissue of origin
Kun Sun et al.
GENOME RESEARCH (2019)
Detection of early-stage hepatocellular carcinoma in asymptomatic HBsAg-seropositive individuals by liquid biopsy
Chunfeng Qu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
Noncoding RNAs Serve as Diagnosis and Prognosis Biomarkers for Hepatocellular Carcinoma
Chang Tan et al.
CLINICAL CHEMISTRY (2019)
Predicting disease-causing variant combinations
Sofia Papadimitriou et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
Genome-wide mapping of 5-hydroxymethylcytosines in circulating cell-free DNA as a non-invasive approach for early detection of hepatocellular carcinoma
Jiabin Cai et al.
GUT (2019)
Machine learning enables detection of early-stage colorectal cancer by whole-genome sequencing of plasma cell-free DNA
Nathan Wan et al.
BMC CANCER (2019)
LBA77Simultaneous multi-cancer detection and tissue of origin (TOO) localization using targeted bisulfite sequencing of plasma cell-free DNA (cfDNA)
G R Oxnard et al.
ANNALS OF ONCOLOGY (2019)
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants
Pedram Razavi et al.
NATURE MEDICINE (2019)
Donor-specific Cell-free DNA as a Biomarker in Solid Organ Transplantation. A Systematic Review
Simon Robert Knight et al.
TRANSPLANTATION (2019)
Circulating cell-free DNA methylation assay: Towards early detection of multiple cancer types
Dhruvajyoti Roy et al.
CANCER RESEARCH (2019)
Non-invasive diagnosis of early-stage lung cancer using high-throughput targeted DNA methylation sequencing of circulating tumor DNA (ctDNA)
Wenhua Liang et al.
THERANOSTICS (2019)
Targeted methylation sequencing of plasma cell-free DNA for cancer detection and classification
L. Liu et al.
ANNALS OF ONCOLOGY (2018)
Circulating cell-free DNA in patients with alveolar echinococcosis
Alice Baraquin et al.
MOLECULAR AND BIOCHEMICAL PARASITOLOGY (2018)
Size-tagged preferred ends in maternal plasma DNA shed light on the production mechanism and show utility in noninvasive prenatal testing
Kun Sun et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Detection and localization of surgically resectable cancers with a multi-analyte blood test
Joshua D. Cohen et al.
SCIENCE (2018)
Cell-Free DNA Methylation of Selected Genes Allows for Early Detection of the Major Cancers in Women
Sandra P. Nunes et al.
CANCERS (2018)
Circulating Cell-Free DNA and Colorectal Cancer: A Systematic Review
Veronika Vymetalkova et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2018)
Preferred end coordinates and somatic variants as signatures of circulating tumor DNA associated with hepatocellular carcinoma
Peiyong Jiang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Comprehensive human cell-type methylation atlas reveals origins of circulating cell-free DNA in health and disease
Joshua Moss et al.
NATURE COMMUNICATIONS (2018)
The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers
Zbyslaw Sondka et al.
NATURE REVIEWS CANCER (2018)
Comparison of whole-genome bisulfite sequencing library preparation strategies identifies sources of biases affecting DNA methylation data
Nelly Olova et al.
GENOME BIOLOGY (2018)
The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis
F. L. Mackie et al.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY (2017)
Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases
Winnie W. I. Hui et al.
CLINICAL CHEMISTRY (2017)
Rapid detection of donor cell free DNA in lung transplant recipients with rejections using donor-recipient HLA mismatch
Jun Zou et al.
HUMAN IMMUNOLOGY (2017)
Cell-Free DNA and Active Rejection in Kidney Allografts
Roy D. Bloom et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)
Identification of methylation haplotype blocks aids in deconvolution of heterogeneous tissue samples and tumor tissue-of-origin mapping from plasma DNA
Shicheng Guo et al.
NATURE GENETICS (2017)
Circulating tumour DNA methylation markers for diagnosis and prognosis of hepatocellular carcinoma
Rui-hua Xu et al.
NATURE MATERIALS (2017)
Analysis of Plasma Epstein-Barr Virus DNA to Screen for Nasopharyngeal Cancer
K. C. Allen Chan et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Direct detection of early-stage cancers using circulating tumor DNA
Jillian Phallen et al.
SCIENCE TRANSLATIONAL MEDICINE (2017)
Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors
Viktor A. Adalsteinsson et al.
NATURE COMMUNICATIONS (2017)
Graft-derived cell-free DNA, a noninvasive early rejection and graft damage marker in liver transplantation: A prospective, observational, multicenter cohort study
Ekkehard Schuetz et al.
PLOS MEDICINE (2017)
Hybrid capture-based genomic profiling of circulating tumor DNA from patients with estrogen receptor-positive metastatic breast cancer
J. H. Chung et al.
ANNALS OF ONCOLOGY (2017)
CancerLocator: non-invasive cancer diagnosis and tissue-of-origin prediction using methylation profiles of cell-free DNA
Shuli Kang et al.
GENOME BIOLOGY (2017)
Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin
Matthew W. Snyder et al.
CELL (2016)
Validation of a Clinical-Grade Assay to Measure Donor-Derived Cell-Free DNA in Solid Organ Transplant Recipients
Marica Grskovic et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2016)
Cell-free DNA (cfDNA): Clinical Significance and Utility in Cancer Shaped By Emerging Technologies
Stanislav Volik et al.
MOLECULAR CANCER RESEARCH (2016)
Integrated digital error suppression for improved detection of circulating tumor DNA
Aaron M. Newman et al.
NATURE BIOTECHNOLOGY (2016)
Identification of tissue-specific cell death using methylation patterns of circulating DNA
Roni Lehmann-Werman et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends
K. C. Allen Chan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Cell-Free DNA as a Diagnostic Tool for Human Parasitic Infections
Kosala G. Weerakoon et al.
TRENDS IN PARASITOLOGY (2016)
Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis
Sian Taylor-Phillips et al.
BMJ OPEN (2016)
An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient Genotyping
Paul M. K. Gordon et al.
FRONTIERS IN CARDIOVASCULAR MEDICINE (2016)
Non-random fragmentation patterns in circulating cell-free DNA reflect epigenetic regulation
Maxim Ivanov et al.
BMC GENOMICS (2015)
Integrative analysis of 111 reference human epigenomes
Anshul Kundaje et al.
NATURE (2015)
Sequencing small genomic targets with high efficiency and extreme accuracy
Michael W. Schmitt et al.
NATURE METHODS (2015)
Cell-free DNA Analysis for Noninvasive Examination of Trisomy
Mary E. Norton et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Exome Sequencing of Cell-Free DNA from Metastatic Cancer Patients Identifies Clinically Actionable Mutations Distinct from Primary Disease
Timothy M. Butler et al.
PLOS ONE (2015)
Noninvasive monitoring of infection and rejection after lung transplantation
Iwijn De Vlaminck et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments
Kun Sun et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients
Peiyong Jiang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis
M. M. Gil et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2015)
Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and the combined test at 11-13 weeks
M. S. Quezada et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2015)
Detection of Plasmodium vivax and Plasmodium falciparum DNA in human saliva and urine: Loop-mediated isothermal amplification for malaria diagnosis
Zahra Ghayour Najafabadi et al.
ACTA TROPICA (2014)
Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma
Maria I. New et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
Highly Sensitive Noninvasive Cardiac Transplant Rejection Monitoring Using Targeted Quantification of Donor-Specific Cell-Free Deoxyribonucleic Acid
Mats Hidestrand et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2014)
Guidelines for investigating causality of sequence variants in human disease
D. G. MacArthur et al.
NATURE (2014)
An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage
Aaron M. Newman et al.
NATURE MEDICINE (2014)
DNA Sequencing versus Standard Prenatal Aneuploidy Screening
Diana W. Bianchi et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Monitoring of Transplanted Liver Health by Quantification of Organ-Specific Genomic Marker in Circulating DNA from Receptor
Hada C. Macher et al.
PLOS ONE (2014)
Circulating Cell-Free DNA Enables Noninvasive Diagnosis of Heart Transplant Rejection
Iwijn De Vlaminck et al.
SCIENCE TRANSLATIONAL MEDICINE (2014)
Dynamic evolution of clonal epialleles revealed by methclone
Sheng Li et al.
GENOME BIOLOGY (2014)
Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA
Muhammed Murtaza et al.
NATURE (2013)
The Cancer Genome Atlas Pan-Cancer analysis project
John N. Weinstein et al.
NATURE GENETICS (2013)
DNA methylation dynamics in health and disease
Yehudit Bergman et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2013)
Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing
Desheng Liang et al.
PRENATAL DIAGNOSIS (2013)
High-throughput DNA sequencing errors are reduced by orders of magnitude using circle sequencing
Dianne I. Lou et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
A Rapid Noninvasive Assay for the Detection of Renal Transplant Injury
Tara K. Sigdel et al.
TRANSPLANTATION (2013)
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
Glenn E. Palomaki et al.
GENETICS IN MEDICINE (2012)
A DNA methylation fingerprint of 1628 human samples
Agustin F. Fernandez et al.
GENOME RESEARCH (2012)
Epigenetic polymorphism and the stochastic formation of differentially methylated regions in normal and cancerous tissues
Gilad Landan et al.
NATURE GENETICS (2012)
Genome-wide nucleosome positioning during embryonic stem cell development
Vladimir B. Teif et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2012)
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
Andrew B. Sparks et al.
PRENATAL DIAGNOSIS (2012)
Detection of ultra-rare mutations by next-generation sequencing
Michael W. Schmitt et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Noninvasive Identification and Monitoring of Cancer Mutations by Targeted Deep Sequencing of Plasma DNA
Tim Forshew et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress
Gholson J. Lyon et al.
GENOME MEDICINE (2012)
Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA
Nancy B. Y. Tsui et al.
BLOOD (2011)
Determinants of nucleosome organization in primary human cells
Anton Valouev et al.
NATURE (2011)
Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21
Elisavet A. Papageorgiou et al.
NATURE MEDICINE (2011)
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
Gregory M. Cooper et al.
NATURE REVIEWS GENETICS (2011)
Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad et al.
NATURE REVIEWS GENETICS (2011)
Genotype and SNP calling from next-generation sequencing data
Rasmus Nielsen et al.
NATURE REVIEWS GENETICS (2011)
Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing
Eric Z. Chen et al.
PLOS ONE (2011)
Detection and quantification of rare mutations with massively parallel sequencing
Isaac Kinde et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Universal noninvasive detection of solid organ transplant rejection
Thomas M. Snyder et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Cell-free nucleic acids as biomarkers in cancer patients
Heidi Schwarzenbach et al.
NATURE REVIEWS CANCER (2011)
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
Rossa W. K. Chiu et al.
BMJ-BRITISH MEDICAL JOURNAL (2011)
COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer
Simon A. Forbes et al.
NUCLEIC ACIDS RESEARCH (2010)
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus
Y. M. Dennis Lo et al.
SCIENCE TRANSLATIONAL MEDICINE (2010)
Cell-Free DNA as a Noninvasive Acute Rejection Marker in Renal Transplantation
Vanessa Garcia Moreira et al.
CLINICAL CHEMISTRY (2009)
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B. Ng et al.
NATURE (2009)
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
Andreas Gnirke et al.
NATURE BIOTECHNOLOGY (2009)
The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores
Rafael A. Irizarry et al.
NATURE GENETICS (2009)
Diagnosing Schistosomiasis by Detection of Cell-Free Parasite DNA in Human Plasma
Dominic Wichmann et al.
PLOS NEGLECTED TROPICAL DISEASES (2009)
Overview of circulating nucleic acids in plasma/serum
Asif N. Butt et al.
CIRCULATING NUCLEIC ACIDS IN PLASMA AND SERUM V (2008)
Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma
Fiona M. F. Lun et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
Rossa W. K. Chiu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
H. Christina Fan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Origin of plasma cell-free DNA after solid organ transplantation
YYN Lui et al.
CLINICAL CHEMISTRY (2003)
The fundamental role of epigenetic events in cancer
PA Jones et al.
NATURE REVIEWS GENETICS (2002)
Prenatal DNA diagnosis of a single-gene disorder from maternal plasma
H Saito et al.
LANCET (2000)
分享论文
