@CLynMead

Mom and scientist. Passionate about genomics, technology, innovation and difficult problems. Tweets are my own.

 San Diego
Joined May 2022
  • Tweets8
  • Following7
  • Followers10
For those of you attending #ASHG22, make sure you register for our event: End-to-End Informatics Solutions Enabling Precision Medicine on Tues. Oct. 25th. eventregistration.illumina.c…
For those of you attending #ASHG22, we have Illumina bioinformatics developers presenting three posters. PB2257: LPA calling from WGS PB2906: Graph alignment for medically relevant genes PB2751: #PGx from #WGS More Illumina at ASHG info here: illumina.com/events/conferen…
Carri-Lyn Mead retweeted
Rami mehio@mehio_rami10 Aug 2022
#PGx studies one's genetic variations effect on the response to medications. In 2020, Illumina #innovation developed algorithms to accurately genotype key PGx genes using #wgs & included them in #DRAGEN starting v3.7. Is PGx useful in your #wgs studies? bit.ly/3zGHvaF

Cyrius: Accurate CYP2D6 genotyping using whole-genome sequencing data

illumina.com
1
4
9
Replying to @ShyamalMehtalia @mehio_rami
This paper provides a broader context of Spinocerebellar ataxias, for those of you wanting more. #fullyfeatured #maximizeWGS #wholegenome #bioinformatics #innovation ng.neurology.org/content/8/3…

Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by...

Background and ObjectivesWe investigated the genetic basis and brain metabolism and blood flow of a Japanese family with spinocerebellar degeneration (SCD), with multiple affected members for 3...

neurology.org
1
2
Replying to @mehio_rami
A recent study shows how whole genome sequencing with #shortreads can be cost-effective for rapid diagnosis of rare ataxias: pubmed.ncbi.nlm.nih.gov/3240…

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-...

The diagnosis of rare ataxias caused by REs is highly feasible and cost-effective with WGS. We propose that WGS could potentially be implemented as the frontline, cost-effective methodology for the...

pubmed.ncbi.nlm.nih.gov
1
2
3
Carri-Lyn Mead retweeted
Rami mehio@mehio_rami2 Aug 2022
Thank you for the poll responses! #wgs can detect pathogenic STRs #DRAGEN 4.0 now integrates Expansion Hunter v5, with 60 pathogenic STRs and additional 50k genotyped STR positions. bit.ly/3RXk2dI​ #fullyfeatured #maximizeWGS #bioinformatics
Rami mehio@mehio_rami29 Jun 2022
Repeat expansions are responsible for over 40 neurological conditions incl. #huntingtondisease & #fragilexsyndrome. Do you use #wholegenomesequencing to detect pathogenic RE variants? #maximizewgs #fullyfeatured #DRAGEN #bioinformatics #sequencing
65%yes
35%no
23 votes • Final results
3
7
20
Load more