#maximizeWGS - Twitter Hashtag

over 3 years ago

The GBA1 gene is difficult to evaluate and is critical for Gaucher, Parkinson’s Disease and Lewy Body Dementia. Read how starting in #DRAGEN v3.10 our targeted caller is able to address this challenge. https://t.co/EB777l906g #fullyfeatured #maximizeWGS #bioinformatics

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Sam Strom, PhD FACMG 💪🧬 @stromulus

over 3 years ago

@mehio_rami If you’re wondering why some STR are susceptible to pathogenic expansion while 1000s of others are relatively stable, check out this article diving deep into the characteristics of disease associated STR: https://t.co/NTsAjmLFjq #fullyfeatured #maximizeWGS #bioinformatics #DRAGEN

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Rami mehio @mehio_rami

almost 4 years ago

Starting with #DRAGEN v3.9, CN calling in SMN1-2 is enabled with our SMNCopyNumberCaller. These genes are implicated in spinal muscular atrophy (#SMA), a leading cause of infant death. Learn about SMA calling: https://t.co/8EdTCPTzj6 #MaximizeWGS #FullyFeatured #bioinformatics

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Sam Strom, PhD FACMG 💪🧬 @stromulus

almost 4 years ago

@ShyamalMehtalia @mehio_rami This paper provides a broader context of Spinocerebellar ataxias, for those of you wanting more. #fullyfeatured #maximizeWGS #wholegenome #bioinformatics #innovation https://t.co/bIzEeuTQk2

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Rami mehio @mehio_rami

almost 4 years ago

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. https://t.co/KTNhWnWs7V #fullyfeatured #maximizeWGS #bioinformatics

mehio_rami's tweet photo. 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. https://t.co/KTNhWnWs7V
#fullyfeatured #maximizeWGS #bioinformatics https://t.co/YDJkR5baWm

Rami mehio @mehio_rami

almost 4 years ago

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

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Sam Strom, PhD FACMG 💪🧬 @stromulus

almost 4 years ago · Monrovia

@mehio_rami Whole genome sequencing works beautifully as a first-tier screening test for >40 established repeat expansion conditions. #maximizewgs #fullyfeatured #innovation #GeneChat https://t.co/8H9Kz8AY88

stromulus's tweet photo. @mehio_rami Whole genome sequencing works beautifully as a first-tier screening test for >40 established repeat expansion conditions.

#maximizewgs #fullyfeatured #innovation #GeneChat
https://t.co/8H9Kz8AY88 https://t.co/ybV0pi5Rav

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Gary Schroth @Genomics_Guy

almost 4 years ago

@mehio_rami Whole genome sequencing with short reads can detect neurological #repeatexpansion disorders, as seen in @genomicsengland study with ~12K patient samples #maximizewgs #fullyfeatured #innovation https://t.co/sHdJKPnDze

Genomics_Guy's tweet photo. @mehio_rami Whole genome sequencing with short reads can detect neurological #repeatexpansion disorders, as seen in @genomicsengland study with ~12K patient samples #maximizewgs #fullyfeatured #innovation https://t.co/sHdJKPnDze https://t.co/WZkhdbW0yb

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Rami mehio @mehio_rami

almost 4 years ago

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

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