A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
Opportunities and challenges in long-read sequencing data analysis
Long-read technologies are overcoming early limitations in accuracy and throughput,
broadening their application domains in genomics. Dedicated analysis tools that take into …
broadening their application domains in genomics. Dedicated analysis tools that take into …
Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …
Repeat expansions confer WRN dependence in microsatellite-unstable cancers
Abstract The RecQ DNA helicase WRN is a synthetic lethal target for cancer cells with
microsatellite instability (MSI), a form of genetic hypermutability that arises from impaired …
microsatellite instability (MSI), a form of genetic hypermutability that arises from impaired …
Utility of long-read sequencing for All of Us
Abstract The All of Us (AoU) initiative aims to sequence the genomes of over one million
Americans from diverse ethnic backgrounds to improve personalized medical care. In a …
Americans from diverse ethnic backgrounds to improve personalized medical care. In a …
[HTML][HTML] Population-scale long-read sequencing uncovers transposable elements associated with gene expression variation and adaptive signatures in Drosophila
High quality reference genomes are crucial to understanding genome function, structure and
evolution. The availability of reference genomes has allowed us to start inferring the role of …
evolution. The availability of reference genomes has allowed us to start inferring the role of …
[HTML][HTML] Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical …
Next-generation sequencing (NGS) technologies are now established in clinical laboratories
as a primary testing modality in genomic medicine. These technologies have reduced the …
as a primary testing modality in genomic medicine. These technologies have reduced the …
[HTML][HTML] Targeted long-read sequencing identifies missing disease-causing variation
Despite widespread clinical genetic testing, many individuals with suspected genetic
conditions lack a precise diagnosis, limiting their opportunity to take advantage of state-of …
conditions lack a precise diagnosis, limiting their opportunity to take advantage of state-of …
The use of whole genome and exome sequencing for newborn screening: challenges and opportunities for population health
AC Woerner, RC Gallagher, J Vockley… - Frontiers in …, 2021 - frontiersin.org
Newborn screening (NBS) is a population-based program with a goal of reducing the
burden of disease for conditions with significant clinical impact on neonates. Screening tests …
burden of disease for conditions with significant clinical impact on neonates. Screening tests …
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases
N Hurvitz, H Azmanov, A Kesler, Y Ilan - European Journal of Human …, 2021 - nature.com
Patients with rare diseases are a major challenge for healthcare systems. These patients
face three major obstacles: late diagnosis and misdiagnosis, lack of proper response to …
face three major obstacles: late diagnosis and misdiagnosis, lack of proper response to …