Biotexcel

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

[Biotexcel @Biotexcel]

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level - https://t.co/2L8jBVa1FC

[Biotexcel @Biotexcel]

The role of gene to gene interaction in the breast’s genomic signature of pregnancy - https://t.co/ZZmJJ3XFVH

[Biotexcel @Biotexcel]

Chimeric synthetic reference standards enable cross-validation of positive and negative controls in SARS-CoV-2 molecular tests - https://t.co/AjXyHUrEU5

[Biotexcel @Biotexcel]

Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder - https://t.co/0d8DgU2wIL

[Biotexcel @Biotexcel]

Detection of genetic variation and base modifications at base-pair resolution on both DNA and RNA - https://t.co/9PmJgbSq3w

[Biotexcel @Biotexcel]

Single cell sequencing reveals endothelial plasticity with transient mesenchymal activation after myocardial infarction - https://t.co/AVtfo7PzqN

[Biotexcel @Biotexcel]

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants - https://t.co/BjJE4pdEd1

[Biotexcel @Biotexcel]

Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder - https://t.co/EGEf5npd3L

[Biotexcel @Biotexcel]

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity - https://t.co/ZUZmbcxn8T

[Biotexcel @Biotexcel]

Mutation load at a mimicry supergene sheds new light on the evolution of inversion polymorphisms - https://t.co/BlcyUjKwtc

[Biotexcel @Biotexcel]

Opposing immune and genetic mechanisms shape oncogenic programs in synovial sarcoma - https://t.co/yURGsYtbiN

[Biotexcel @Biotexcel]

Participant mothers’ attitudes toward genetic analysis in a birth cohort study - https://t.co/FIk2qXuDf9

[Biotexcel @Biotexcel]

Accelerating functional gene discovery in osteoarthritis - https://t.co/SeXxEuTziB

[Biotexcel @Biotexcel]

Short H2A histone variants are expressed in cancer - https://t.co/V7oBjuhht1

[Biotexcel @Biotexcel]

Liquid biopsy enters the clinic — implementation issues and future challenges - https://t.co/me2ROoN0NY

[Biotexcel @Biotexcel]

MVP predicts the pathogenicity of missense variants by deep learning - https://t.co/cNx61Jy1DK

[Biotexcel @Biotexcel]

Repeat DNA-PAINT suppresses background and non-specific signals in optical nanoscopy - https://t.co/G6HeRW2beN

[Biotexcel @Biotexcel]

Whole genomic sequencing based genotyping reveals a specific X3 sublineage restricted to Mexico and related with multidrug resistance - https://t.co/RURlWReA5U

[Biotexcel @Biotexcel]

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 - https://t.co/ZGiwwqtu6E

[Biotexcel @Biotexcel]

Alarming COVID variants show vital role of genomic surveillance - https://t.co/JdYqwwo8MK