![Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline | Journal of Medical Genetics Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline | Journal of Medical Genetics](https://jmg.bmj.com/sites/default/files/highwire/jmedgenet/57/12.cover-source.jpg)
Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline | Journal of Medical Genetics
![PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels | Nature Genetics PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels | Nature Genetics](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fs41588-019-0528-2/MediaObjects/41588_2019_528_Fig1_HTML.png)
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels | Nature Genetics
![PDF) Summary Document - NHS Genomic Medicine Centres: National Service Evaluation of the Consent Process and Participant Materials used in the 100,000 Genomes Project PDF) Summary Document - NHS Genomic Medicine Centres: National Service Evaluation of the Consent Process and Participant Materials used in the 100,000 Genomes Project](https://i1.rgstatic.net/publication/311440620_Summary_Document_-_NHS_Genomic_Medicine_Centres_National_Service_Evaluation_of_the_Consent_Process_and_Participant_Materials_used_in_the_100000_Genomes_Project/links/58469b3808ae8e63e62e0a0a/largepreview.png)