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Making Rare Disease Progress With Novel Strategies Data Standardization And More

Making Rare Disease Progress With Novel Strategies Data Standardization And More
clinicalleader.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from clinicalleader.com Daily Mail and Mail on Sunday newspapers.

Jeff-parke , Innovations-in-therapeutic-development , Public-health-genomics , Human-phenotype-ontology , Clinical-decision-support-systems , Rare-diseases , Registry-management , Gene-therapy-methods , Health-genomics , Common-variable-immunodeficiency , Orphanetj-rare ,

London North West University Healthcare NHS Trust Finds Digital Way Forward with PhenoTips' Genomic Health Record

London North West University Healthcare NHS Trust Finds Digital Way Forward with PhenoTips' Genomic Health Record
finanznachrichten.de - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from finanznachrichten.de Daily Mail and Mail on Sunday newspapers.

United-states , United-kingdom , Northwick , Cheshire-west-and-chester , Toronto , Ontario , Canada , Ealing , Middlesex , United-kingdom-general- , Canadian , Pawel-buczkowicz

Bionano Announces Significant Upgrades to its Bionano Solve Pipeline and its VIA Software for OGM Data Analysis in Constitutional Genetic Disease Research

SAN DIEGO - Bionano Genomics, Inc. , today announced significant upgrades to its pipeline for analysis of optical genome mapping data in its VIA software for applications in constitutional genetic...

Russia , Israel , Erik-holmlin , David-holmes , American-college-of-medical-genetics , Bionano-genomics-inc , Lineagen-inc , Nasdaq , Gilmartin-group , Exchange-commission , Bionano-solve , Medical-genetics

BioNano Genomics (BNGO) Announces Significant Upgrades to its Bionano Solve Pipeline

BioNano Genomics (BNGO) Announces Significant Upgrades to its Bionano Solve Pipeline
streetinsider.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from streetinsider.com Daily Mail and Mail on Sunday newspapers.

Erik-holmlin , Bionano-genomics-inc , American-college-of-medical-genetics , Nasdaq , Bionano-genomics , Bionano-solve , American-college , Medical-genetics , Genomic-variants , Human-phenotype-ontology , Additional-data , Bionano-access

Bionano Announces Significant Upgrades to its Bionano Solve Pipeline and its VIA™ Software for OGM Data Analysis in Constitutional Genetic Disease Research

Bionano Announces Significant Upgrades to its Bionano Solve Pipeline and its VIA™ Software for OGM Data Analysis in Constitutional Genetic Disease Research
sina.com.hk - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from sina.com.hk Daily Mail and Mail on Sunday newspapers.

Israel , Ukraine , Russia , David-holmes , Erik-holmlin , Lineagen-inc , Bionano-genomics-inc , Company-contact , Nasdaq , Exchange-commission , American-college-of-medical-genetics , Gilmartin-group

New Workflow Enhances Detection of 5q-Spinal Muscular Atrophy

New Workflow Enhances Detection of 5q-Spinal Muscular Atrophy
miragenews.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from miragenews.com Daily Mail and Mail on Sunday newspapers.

Amsterdam , Noord-holland , Netherlands , Munich , Bayern , Germany , Teresa-neuhann , Angela-abicht , Genetics-center , Department-of-neurology , Medical-genetics-center , Human-phenotype-ontology

New diagnostic workflow improves detection of 5q-spinal muscular atrophy

5q-spinal muscular atrophy (5q-SMA) is one of the more common types of spinal muscular atrophy (SMA) affecting around one in ten thousand individuals worldwide.

Munich , Bayern , Germany , Teresa-neuhann , Angela-abicht , Department-of-neurology , Genetics-center , Lead-investigator , Medical-genetics-center , Human-phenotype-ontology , Muscular-atrophy , Pinal-muscular-atrophy

Novel workflow closes the gap in detecting 5q-spinal muscular atrophy

Novel workflow closes the gap in detecting 5q-spinal muscular atrophy
medicalxpress.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medicalxpress.com Daily Mail and Mail on Sunday newspapers.

Munich , Bayern , Germany , Stephanie-kleinle , Teresa-neuhann , Angela-abicht , Genetics-center , Department-of-neurology , Integrative-genomics-viewer , Neuromuscular-diseases , Medical-genetics-center , Human-phenotype-ontology

CENTOGENE Biodatabank Reveals Unique Genetic Variants in World's Largest Niemann-Pick Type C1 Disease Cohort

Results Published in European Journal of Human Genetics Demonstrate Unprecedented Insights to Accelerate Potential Treatment OptionsInclusion of 602 patients from 47 countries represents the world’s...

Cambridge , Cambridgeshire , United-kingdom , Germany , United-states , Peter-bauer , Bayern , Berlin , Italy , America , Aida-bertoli-avella , Lennart-streibel

Centogene N.V. (CNTG) Biodatabank Reveals Unique Genetic Variants in World's Largest Niemann-Pick Type C1 Disease Cohort

Centogene N.V. (CNTG) Biodatabank Reveals Unique Genetic Variants in World's Largest Niemann-Pick Type C1 Disease Cohort
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Italy , United-kingdom , United-states , Germany , Peter-bauer , Bayern , America , Aida-bertoli-avella , Head-of-research-data-analysis , Melissa-hallcorporate-communications , International-niemann , Linkedin