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 …
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 …
Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing
Abstract Background Structural variations (SVs) or copy number variations (CNVs) greatly
impact the functions of the genes encoded in the genome and are responsible for diverse …
impact the functions of the genes encoded in the genome and are responsible for diverse …
Detection of somatic structural variants from short-read next-generation sequencing data
Somatic structural variants (SVs), which are variants that typically impact> 50 nucleotides,
play a significant role in cancer development and evolution but are notoriously more difficult …
play a significant role in cancer development and evolution but are notoriously more difficult …
Blocking genomic instability prevents acquired resistance to MAPK inhibitor therapy in melanoma
P Dharanipragada, X Zhang, S Liu, SH Lomeli, A Hong… - Cancer discovery, 2023 - AACR
Blocking cancer genomic instability may prevent tumor diversification and escape from
therapies. We show that, after MAPK inhibitor (MAPKi) therapy in patients and mice bearing …
therapies. We show that, after MAPK inhibitor (MAPKi) therapy in patients and mice bearing …
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population
A Ameur, J Dahlberg, P Olason, F Vezzi… - European Journal of …, 2017 - nature.com
Here we describe the SweGen data set, a comprehensive map of genetic variation in the
Swedish population. These data represent a basic resource for clinical genetics laboratories …
Swedish population. These data represent a basic resource for clinical genetics laboratories …
[HTML][HTML] Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants
Whole-genome sequencing (WGS) is a fundamental technology for research to advance
precision medicine, but the limited availability of portable and user-friendly workflows for …
precision medicine, but the limited availability of portable and user-friendly workflows for …
Multi-organ landscape of therapy-resistant melanoma
S Liu, P Dharanipragada, SH Lomeli, Y Wang… - Nature medicine, 2023 - nature.com
Metastasis and failure of present-day therapies represent the most common causes of
mortality in patients with cutaneous melanoma. To identify the underlying genetic and …
mortality in patients with cutaneous melanoma. To identify the underlying genetic and …
Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway
KH Saba, V Difilippo, M Kovac… - The Journal of …, 2024 - Wiley Online Library
TP53 is the most frequently mutated gene in human cancer. This gene shows not only loss‐
of‐function mutations but also recurrent missense mutations with gain‐of‐function activity …
of‐function mutations but also recurrent missense mutations with gain‐of‐function activity …
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation …
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 …