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 



Thursday, 29 October 2020

IonCRAM: a reference-based compression tool for ion torrent sequence files

 IonCRAM: a reference-based compression tool for ion torrent sequence files https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7487613/ 

 IonCRAM, the first reference-based compression tool to compress Ion Torrent BAM files for long term archiving. For the BAM files, IonCRAM could achieve a space saving of about 43%. This space saving is superior to what achieved with the CRAM format by about 8–9%.

Future research for reducing the space consumption of the Ion Torrent BAM files would include the binning of the flow signal and quality values. The idea of binning was initially introduced by Illumina [] to reduce the space consumption of the quality values. This initiative was immediately followed by intensive research to optimize the binning procedure and address its effect on the downstream analysis, especially on the variant calling step []. We think that the binning of flow signals and quality data of Ion Torrent would also be successful, provided that the manufacturer contribute to this research. We added an option to IonCRAM for binning the flow signals, in a similar way to the binning method implemented in [], and measured its effect on compression (Supplementary File 1). We left the step for investigating the effect of this binning on the downstream analysis to further research.

It is worth mentioning that IonCRAM has not been only used for the test data in the paper, it has also been used to compress and backup thousands of files for the Saudi Human Genome Program. IonCRAM is an open source and it is available for free along with the related test data at the tool website http://ioncram.saudigenomeproject.com.

  

Static ip on Jessie Raspbian with dhcpcd.conf


Static IP address templates for dhcpcd.conf

https://www.raspberrypi.org/forums/viewtopic.php?t=140252

######################################################
# TEMPLATE: A static IP address only when no DHCP
#
#           The profile name is arbitrary. Use "fred"
#           if you want. Not much we can put as
#           default servers, but set them up as
#           you usually would.
######################################################
interface eth0
fallback nodhcp

profile nodhcp
static ip_address=10.0.0.1/8
static routers=10.0.0.1
static domain_name_servers=10.0.0.1


Trying to do this

https://www.diyhobi.com/share-raspberry-pi-wifi-internet-ethernet/

Future of Genomics: 10 bold predictions

 Curious about research priorities and opportunities for human genomics for the next decade? You should read on.

The National Human Genome Research Institute (NHGRI) this week published its “Strategic vision for improving human health at The Forefront of Genomics” in the journal Nature.

The strategic vision culminates with 10 bold predictions for human genomics by 2030. Crafted to be both inspirational and aspirational, the predictions are intended to provoke thoughtful discussions (and even debate) about what might be possible in the coming decade.

I must say that I expected people to store their encrypted genome sequences on smartphones anduse 5G networks to launch on the fly analyses a few years back. Not sure if we will have that by 2030!

it's also a good time to review the 5 years prediction from 2015
 Read about gold genomes and platinum genomes... 

 
The 2020 NHGRI Strategic Vision is available online at 
genome.gov/2020SV.

 

 

 

Monday, 8 April 2019

FAAH-OUT This woman feels no pain!

"A woman in Scotland can feel virtually no pain due to a mutation ...
At age 65, the woman sought treatment for an issue with her hip, which turned out to involve severe joint degeneration despite her experiencing no pain. At age 66, she underwent surgery on her hand, which is normally very painful, and yet she reported no pain after the surgery. Her pain insensitivity was diagnosed by Dr Devjit Srivastava, Consultant in Anaesthesia and Pain Medicine at an NHS hospital in the north of Scotland and co-lead author of the paper....
which the researchers have described for the first time and dubbed FAAH-OUT. "

https://www.sciencedaily.com/releases/2019/03/190327203450.htm

Journal Reference:

    Abdella M. Habib, Andrei L. Okorokov, Matthew N. Hill, Jose T. Bras, Man-Cheung Lee, Shengnan Li, Samuel J. Gossage, Marie van Drimmelen, Maria Morena, Henry Houlden, Juan D. Ramirez, David L.H. Bennett, Devjit Srivastava, James J. Cox. Microdeletion in a pseudogene identified in a patient with high anandamide concentrations and pain insensitivity. British Journal of Anaesthesia, 2019; DOI: 10.1016/j.bja.2019.02.019

Datanami, Woe be me