Biotexcel's profile picture. Genomics, Biomarkers and Diagnostics from Patient Perspectives - Knowledge Dissemination and Research Advocacy

Biotexcel

@Biotexcel

Genomics, Biomarkers and Diagnostics from Patient Perspectives - Knowledge Dissemination and Research Advocacy

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level - ow.ly/i1zE30ruUYg


Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder - ow.ly/uoqA30ruUYd


CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants - ow.ly/p8fi30ruacj


Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder - ow.ly/prbW30ruaci


Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity - ow.ly/127430ruach


Mutation load at a mimicry supergene sheds new light on the evolution of inversion polymorphisms - ow.ly/wV8Z30ruacg


Opposing immune and genetic mechanisms shape oncogenic programs in synovial sarcoma - ow.ly/GsIk30ruacf


Accelerating functional gene discovery in osteoarthritis - ow.ly/7ii830rtyN2


Short H2A histone variants are expressed in cancer - ow.ly/dgVN30rtyN1


Liquid biopsy enters the clinic — implementation issues and future challenges - ow.ly/ciBw30rtyN0


Repeat DNA-PAINT suppresses background and non-specific signals in optical nanoscopy - ow.ly/r9hj30rtyMY


Whole genomic sequencing based genotyping reveals a specific X3 sublineage restricted to Mexico and related with multidrug resistance - ow.ly/R6pR30rtyMX


Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals - ow.ly/DVls30rt3zz


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