Clinical metagenomics
CY Chiu, SA Miller - Nature Reviews Genetics, 2019 - nature.com
Clinical metagenomic next-generation sequencing (mNGS), the comprehensive analysis of
microbial and host genetic material (DNA and RNA) in samples from patients, is rapidly …
microbial and host genetic material (DNA and RNA) in samples from patients, is rapidly …
Analysis of cell‐free DNA in maternal blood in screening for aneuploidies: updated meta‐analysis
Objectives To review clinical validation or implementation studies of maternal blood cell‐free
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …
[HTML][HTML] Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
AR Gregg, BG Skotko, JL Benkendorf, KG Monaghan… - Genetics in …, 2016 - Elsevier
Disclaimer: This statement is designed primarily as an educational resource for clinicians to
help them provide quality medical services. Adherence to this statement is completely …
help them provide quality medical services. Adherence to this statement is completely …
[HTML][HTML] Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American …
JS Dungan, S Klugman, S Darilek, J Malinowski… - Genetics in …, 2023 - Elsevier
Purpose This workgroup aimed to develop an evidence-based clinical practice guideline for
the use of noninvasive prenatal screening (NIPS) for pregnant individuals at general risk for …
the use of noninvasive prenatal screening (NIPS) for pregnant individuals at general risk for …
QUADAS-C: a tool for assessing risk of bias in comparative diagnostic accuracy studies
Comparative diagnostic test accuracy studies assess and compare the accuracy of 2 or
more tests in the same study. Although these studies have the potential to yield reliable …
more tests in the same study. Although these studies have the potential to yield reliable …
Plasma DNA tissue map** by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments
Plasma consists of DNA released from multiple tissues within the body. Using genome-wide
bisulfite sequencing of plasma DNA and deconvolution of the sequencing data with …
bisulfite sequencing of plasma DNA and deconvolution of the sequencing data with …
Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis
MM Gil, MS Quezada, R Revello… - … in obstetrics & …, 2015 - Wiley Online Library
Objective To review clinical validation or implementation studies of maternal blood cell‐free
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …
Advanced maternal age and adverse pregnancy outcomes
AP Frick - Best practice & research Clinical obstetrics & …, 2021 - Elsevier
A wide range of adverse pregnancy outcomes are associated with women of advanced
maternal age (AMA). These include increased risks for miscarriage, chromosomal …
maternal age (AMA). These include increased risks for miscarriage, chromosomal …
Down syndrome
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of
clinical features commonly known as Down syndrome (DS). DS is among the most …
clinical features commonly known as Down syndrome (DS). DS is among the most …
Concordance of circulating tumor DNA and matched metastatic tissue biopsy in prostate cancer
Background: Real-time knowledge of the somatic genome can influence management of
patients with metastatic castration-resistant prostate cancer (mCRPC). While routine …
patients with metastatic castration-resistant prostate cancer (mCRPC). While routine …