[HTML][HTML] Intellectual disability genomics: current state, pitfalls and future challenges
N Maia, MJ Nabais Sá, M Melo-Pires, APM de Brouwer… - BMC genomics, 2021 - Springer
Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being
responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic …
responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic …
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 …
The GA4GH Phenopacket schema defines a computable representation of clinical data
TG is a shareholder of Westlake Omics Inc. TI is a cofounder of Data4Cure, is on the
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
[HTML][HTML] Network analysis reveals rare disease signatures across multiple levels of biological organization
Rare genetic diseases are typically caused by a single gene defect. Despite this clear
causal relationship between genotype and phenotype, identifying the pathobiological …
causal relationship between genotype and phenotype, identifying the pathobiological …
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays
thanks to the wide adoption of next‐generation sequencing. However, many cases remain …
thanks to the wide adoption of next‐generation sequencing. However, many cases remain …
[HTML][HTML] Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield
of patients with rare diseases. However, the cost and efforts required for reanalysis prevent …
of patients with rare diseases. However, the cost and efforts required for reanalysis prevent …
[HTML][HTML] Position paper on management of personal data in environment and health research in Europe
Management of datasets that include health information and other sensitive personal
information of European study participants has to be compliant with the General Data …
information of European study participants has to be compliant with the General Data …
Clinical exome sequencing—mistakes and caveats
J Corominas, SP Smeekens, MR Nelen… - Human …, 2022 - Wiley Online Library
Massive parallel sequencing technology has become the predominant technique for genetic
diagnostics and research. Many genetic laboratories have wrestled with the challenges of …
diagnostics and research. Many genetic laboratories have wrestled with the challenges of …
[HTML][HTML] FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research
The genomes of thousands of individuals are profiled within Dutch healthcare and research
each year. However, this valuable genomic data, associated clinical data and consent are …
each year. However, this valuable genomic data, associated clinical data and consent are …
Prenatal phenotyping: a community effort to enhance the Human Phenotype Ontology
F Dhombres, P Morgan, BP Chaudhari… - American Journal of …, 2022 - Wiley Online Library
Technological advances in both genome sequencing and prenatal imaging are increasing
our ability to accurately recognize and diagnose Mendelian conditions prenatally …
our ability to accurately recognize and diagnose Mendelian conditions prenatally …