Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases [0.03%]
下一代测序在罕见儿科疾病诊断中面临的机遇与技术挑战
Chiara Bacchelli,Hywel J Williams
Chiara Bacchelli
Rare pediatric diseases are clinically severe with high rates of mortality and morbidity. This paper outlines how next-generation sequencing (NGS) can be used to greatly advance identification of the underlying genetic causes. Areas covered...
Cecilia Ching Sze Yeung,Daniel Egan,Jerald P Radich
Cecilia Ching Sze Yeung
Fusion of BCR-ABL1 genes causes chronic myeloid leukemia (CML). As a reliable marker of disease burden, it also serves as the target of tyrosine kinase inhibitors (TKIs). New more sensitive molecular diagnostic tools for BCR-ABL1 can contri...
Frederic G Barr
Frederic G Barr
How can we detect HIV during the acute or primary stage of infection? [0.03%]
如何在HIV感染的急性或初期阶段检测该病毒？
Martin Hoenigl,Susan J Little
Martin Hoenigl
Progress and potential of RAS mutation detection for diagnostics and companion diagnostics [0.03%]
基因突变检测在诊断和伴随诊断中的进展与潜能
Ian A Cree
Ian A Cree
The importance of RAS mutation in carcinogenesis is established, and knowledge of an individual cancer's mutation status is important for optimal treatment. Areas covered: This paper is restricted to RAS testing in cancer, and highlights pa...
PCR methodology and applications for the detection of human fungal pathogens [0.03%]
用于检测人类真菌病原体的PCR方法学及应用
Matthew William McCarthy,Thomas J Walsh
Matthew William McCarthy
Introduction: Polymerase chain reaction (PCR) has emerged as a promising technology for the rapid and reliable detection and identification of medical mycoses. Recent technological advancements - including microarray, mul...
Molecular digital pathology: progress and potential of exchanging molecular data [0.03%]
分子数字化病理：交换分子数据的进展与潜力
Somak Roy,John D Pfeifer,William A LaFramboise et al.
Somak Roy et al.
Many of the demands to perform next generation sequencing (NGS) in the clinical laboratory can be resolved using the principles of telepathology. Molecular telepathology can allow facilities to outsource all or a portion of their NGS operat...
Nikolaos K Gatselis,George N Dalekos
Nikolaos K Gatselis
Introduction: A reliable liver autoimmune serology for the diagnosis of primary biliary cholangitis (PBC) is of particular importance. Recognition of patients at early stages and prompt treatment initiation may alter the ...
Management of high-risk HPV-positive women for detection of cervical (pre)cancer [0.03%]
高危人乳头瘤病毒感染女性的管理以期发现宫颈癌前病变及宫颈癌
Roosmarijn Luttmer,Lise M A De Strooper,Renske D M Steenbergen et al.
Roosmarijn Luttmer et al.
Introduction: Primary HPV-testing has been shown to provide a superior detection of women at risk of cervical (pre)cancer compared to cytology-based screening. However, as most high-risk HPV infections are harmless, addit...
Third generation sequencing technologies applied to diagnostic microbiology: benefits and challenges in applications and data analysis [0.03%]
第三代测序技术在诊断微生物学中的应用及所面临的机遇与挑战
Enrico Lavezzo,Luisa Barzon,Stefano Toppo et al.
Enrico Lavezzo et al.
Introduction: The diagnosis of infectious diseases is among the most successful areas of application of new generation sequencing technologies. The field has seen the development of numerous experimental and analytical ap...