Best practices for the interpretation and reporting of clinical whole genome sequencing
CA Austin-Tse, V Jobanputra, DL Perry, D Bick… - NPJ genomic …, 2022 - nature.com
Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …
with rare genetic disorders. However, standards addressing the definition and deployment …
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot … - New England Journal of …, 2021 - Mass Medical Soc
Abstract Background The UK 100,000 Genomes Project is in the process of investigating the
role of genome sequencing in patients with undiagnosed rare diseases after usual care and …
role of genome sequencing in patients with undiagnosed rare diseases after usual care and …
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic
lateral sclerosis and frontotemporal dementia,–, two related neurodegenerative diseases …
lateral sclerosis and frontotemporal dementia,–, two related neurodegenerative diseases …
The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review
A Elhabyan, S Elyaacoub, E Sanad, A Abukhadra… - Virus research, 2020 - Elsevier
Background Susceptibility to severe viral infections was reported to be associated with
genetic variants in immune response genes using case reports and GWAS studies. SARS …
genetic variants in immune response genes using case reports and GWAS studies. SARS …
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research
Comprehensive genome annotation is essential to understand the impact of clinically
relevant variants. However, the absence of a standard for clinical reporting and browser …
relevant variants. However, the absence of a standard for clinical reporting and browser …
Open Targets Platform: supporting systematic drug–target identification and prioritisation
Abstract The Open Targets Platform (https://www. targetvalidation. org/) provides users with
a queryable knowledgebase and user interface to aid systematic target identification and …
a queryable knowledgebase and user interface to aid systematic target identification and …
The UCSC genome browser database: 2024 update
Abstract The UCSC Genome Browser (https://genome. ucsc. edu) is a web-based genomic
visualization and analysis tool that serves data to over 7,000 distinct users per day …
visualization and analysis tool that serves data to over 7,000 distinct users per day …
The landscape of tolerated genetic variation in humans and primates
Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
H Stranneheim, K Lagerstedt-Robinson… - Genome Medicine, 2021 - Springer
Background We report the findings from 4437 individuals (3219 patients and 1218 relatives)
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Background The majority of clinical genetic testing focuses almost exclusively on regions of
the genome that directly encode proteins. The important role of variants in non-coding …
the genome that directly encode proteins. The important role of variants in non-coding …