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Genomics
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Homo sapiens
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Callithrix jacchus
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ENA
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biostudies-arrayexpress
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pride
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Mass Spectrometry
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Shotgun proteomics
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2014
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2022
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ChIP-seq
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RNA-seq of coding RNA
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Lab affiliation
Wellcome Centre for Cell-Matrix Research, Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, United Kingdom
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2026
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2013
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xref:PubMed:17109755
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xref:PubMed:17822919
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xref:PubMed:25038751
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xref:PubMed:32702120
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Increased COVID-19 mortality rate in rare disease patients: a retrospective cohort study in participants of the Genomics England 100,000 Genomes project.
Not available
S-EPMC9003178
|
biostudies-literature
Cite
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.
Not available
S-EPMC10918460
|
biostudies-literature
Cite
Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation.
Not available
S-EPMC9278305
|
biostudies-literature
Cite
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
Not available
S-EPMC11097485
|
biostudies-literature
Cite
De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.
Not available
S-EPMC9647983
|
biostudies-literature
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SATurn: a modular bioinformatics framework for the design of robust maintainable web-based and standalone applications.
Not available
S-EPMC6329998
|
biostudies-literature
Cite
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Not available
S-EPMC9939255
|
biostudies-literature
Cite
The use of representative community samples to assess SARS-CoV-2 lineage competition: Alpha outcompetes Beta and wild-type in England from January to March 2021.
Not available
S-EPMC9997751
|
biostudies-literature
Cite
Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.
Not available
S-EPMC7691802
|
biostudies-literature
Cite
Validation of clinical-grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly-diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project.
Not available
S-EPMC9175844
|
biostudies-literature
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