Precision medicine in rare diseases: What is next?
Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood
as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare …
as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare …
[HTML][HTML] 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 …
Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders
H Stranneheim, A Wedell - Journal of internal medicine, 2016 - Wiley Online Library
Massively parallel DNA sequencing has revolutionized analyses of human genetic variation.
From having been out of reach for individual research groups and even more so for clinical …
From having been out of reach for individual research groups and even more so for clinical …
[HTML][HTML] A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
While the cost of whole genome sequencing (WGS) is approaching the realm of routine
medical tests, it remains too tardy to help guide the management of many acute medical …
medical tests, it remains too tardy to help guide the management of many acute medical …
[HTML][HTML] Comparison of short-read sequence aligners indicates strengths and weaknesses for biologists to consider
R Musich, L Cadle-Davidson, MV Osier - Frontiers in Plant Science, 2021 - frontiersin.org
Aligning short-read sequences is the foundational step to most genomic and transcriptomic
analyses, but not all tools perform equally, and choosing among the growing body of …
analyses, but not all tools perform equally, and choosing among the growing body of …
[HTML][HTML] Implementing precision medicine in a regionally organized healthcare system in Sweden
To the Editor—An increasing number of precision medicine initiatives have been launched
worldwide, with Genomics England as the pioneering flagship project 1. Although some …
worldwide, with Genomics England as the pioneering flagship project 1. Although some …
[HTML][HTML] Next generation plasma proteome profiling to monitor health and disease
The need for precision medicine approaches to monitor health and disease makes it
important to develop sensitive and accurate assays for proteome profiles in blood. Here, we …
important to develop sensitive and accurate assays for proteome profiles in blood. Here, we …
[HTML][HTML] From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic …
Background Since different types of genetic variants, from single nucleotide variants (SNVs)
to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use …
to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use …
[HTML][HTML] Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates
DL Bodian, E Klein, RK Iyer, WSW Wong… - Genetics in …, 2016 - nature.com
Purpose: To assess the potential of whole-genome sequencing (WGS) to replicate and
augment results from conventional blood-based newborn screening (NBS). Methods …
augment results from conventional blood-based newborn screening (NBS). Methods …
[HTML][HTML] Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy
SQSTM1 (sequestosome 1; also known as p62) encodes a multidomain scaffolding protein
involved in various key cellular processes, including the removal of damaged mitochondria …
involved in various key cellular processes, including the removal of damaged mitochondria …