Advancements in next-generation sequencing
The term next-generation sequencing is almost a decade old, but it remains the colloquial
way to describe highly parallel or high-output sequencing methods that produce data at or …
way to describe highly parallel or high-output sequencing methods that produce data at or …
Next-generation sequencing—an overview of the history, tools, and “Omic” applications
JK Kulski - Next generation sequencing-advances, applications …, 2016 - books.google.com
Next-generation sequencing (NGS) technologies using DNA, RNA, or methylation
sequencing have impacted enormously on the life sciences. NGS is the choice for large …
sequencing have impacted enormously on the life sciences. NGS is the choice for large …
Genetic mechanisms of critical illness in COVID-19
Host-mediated lung inflammation is present, and drives mortality, in the critical illness
caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with …
caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with …
Prevalence and architecture of de novo mutations in developmental disorders
Nature, 2017 - nature.com
The genomes of individuals with severe, undiagnosed developmental disorders are
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …
Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software
In recent years, many software packages for identifying structural variants (SVs) using whole-
genome sequencing data have been released. When published, a new method is commonly …
genome sequencing data have been released. When published, a new method is commonly …
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
We compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in
six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus …
six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus …
[HTML][HTML] A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants
The second Newborn Sequencing in Genomic Medicine and Public Health study was a
randomized, controlled trial of the effectiveness of rapid whole-genome or-exome …
randomized, controlled trial of the effectiveness of rapid whole-genome or-exome …
The genetic structure of marijuana and hemp
Despite its cultivation as a source of food, fibre and medicine, and its global status as the
most used illicit drug, the genus Cannabis has an inconclusive taxonomic organization and …
most used illicit drug, the genus Cannabis has an inconclusive taxonomic organization and …
Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders
A Stray-Pedersen, HS Sorte, P Samarakoon… - Journal of Allergy and …, 2017 - Elsevier
Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …
Genome sequencing of autism-affected families reveals disruption of putative noncoding regulatory DNA
We performed whole-genome sequencing (WGS) of 208 genomes from 53 families affected
by simplex autism. For the majority of these families, no copy-number variant (CNV) or …
by simplex autism. For the majority of these families, no copy-number variant (CNV) or …