Biotexcel @Biotexcel

Genomics, Biomarkers and Diagnostics from Patient Perspectives - Knowledge Dissemination and Research Advocacy biotexcel.com Manchester Joined September 2011

Tweets

10K
Followers

2K
Following

830
Likes

1K

Biotexcel @Biotexcel

5 years ago

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

0 0 0 0 0

Biotexcel @Biotexcel

5 years ago

The role of gene to gene interaction in the breast’s genomic signature of pregnancy - ow.ly/Yv0G30ruUYf

0 0 0 0 0

Biotexcel @Biotexcel

5 years ago

Chimeric synthetic reference standards enable cross-validation of positive and negative controls in SARS-CoV-2 molecular tests - ow.ly/7xxL30ruUYe

0 0 0 0 0

Biotexcel @Biotexcel

5 years ago

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

0 0 0 0 0

Biotexcel @Biotexcel

5 years ago

Detection of genetic variation and base modifications at base-pair resolution on both DNA and RNA - ow.ly/zf8N30ruUYc

0 0 0 0 0

Biotexcel @Biotexcel

5 years ago

Single cell sequencing reveals endothelial plasticity with transient mesenchymal activation after myocardial infarction - ow.ly/6DBA30ruUYb

0 1 0 0 0

Biotexcel @Biotexcel

5 years ago

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

0 0 0 0 0

Biotexcel @Biotexcel

5 years ago

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

0 0 1 0 0

Biotexcel @Biotexcel

5 years ago

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

0 0 0 0 0

Biotexcel @Biotexcel

5 years ago

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

0 0 0 0 0

Biotexcel @Biotexcel

5 years ago

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

0 0 0 0 0

Biotexcel @Biotexcel

5 years ago

Participant mothers’ attitudes toward genetic analysis in a birth cohort study - ow.ly/43wL30ruace

0 0 0 0 0

Biotexcel @Biotexcel

5 years ago

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

0 0 0 0 0

Biotexcel @Biotexcel

5 years ago

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

0 0 0 0 0

Biotexcel @Biotexcel

5 years ago

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

0 0 0 0 0

Biotexcel @Biotexcel

5 years ago

MVP predicts the pathogenicity of missense variants by deep learning - ow.ly/vGmm30rtyMZ

0 0 1 0 0

Biotexcel @Biotexcel

5 years ago

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

0 0 1 0 0

Biotexcel @Biotexcel

5 years ago

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

0 0 0 0 0

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