Thursday 12 November 2020

A novel BRCA2 splice variant identified in a young woman

 Sharing a newly published article where a novel c.682‐2delA variant involving the AG consensus at the 3′ end of BRCA2 intron 8 was detected. The case involved a 33‐year‐old Italian breast cancer patient belonging to a HBOC family (BRCAPro score: 88%) with no other known pathogenic BRCA mutation. 

 

A novel BRCA2 splice variant identified in a young woman - Nicolussi - - Molecular Genetics & Genomic Medicine

Wednesday 4 November 2020

de novo assembly of Ion Torrent Reads

 I am intrigued that this Genome assembly guide includes mention of SOLID and Ion Torrent ... although not much information is given on how to work on them for genome assembly. 

That said, perhaps the SPADES plugin provided with the sequencer solves most of everyone's immediate needs ... Wondering how improve on evaluating the assemblies 



Datanami, Woe be me