Posters Archives - Fabric Genomics

Posters

Integration of Phevor Algorithm Module to Aid Candidate Gene Identification in a Clinical WES Analysis Pipeline: Prospective Review Across 74 Consecutive Cases

Wenjie Chen, Ph.D. et al, LabCorp – Integrated Genetics

ACMG 2017 Poster # 591
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Posters

Novel Homozygous NPC1 Mutation Diagnosed in a 2 Month Old with Cholestasis by Rapid Whole-Genome Sequencing

Amber Hildreth, D.O. et al, Rady Children’s Institute for Genomic Medicine

ACMG 2017 Poster #598
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Posters

Accurate Detection of Structural Genetic Changes Using NGS Data to Reduce the Proportion of Unsolved Cases at Low Resource Cost

S. Niranjan Shekar, Ph.D. et al, Fabric Genomics

ACMG 2017 Poster #352
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Posters

Harmonization of the ACMG-AMP Scoring Rules and Experiences in Clinical Adoption Within OpalTM Clinical, a Genome Interpretation Software Platform

Anna Lewis, Ph.D. et al, Fabric Genomics

ACMG 2017 Poster #440
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Posters

Increased Yield of Clinically Relevant Candidates in the UK 100,000 Genomes Project Using OpalTM Clinical for Hereditary Disease

Melanie Babcock, Ph.D. et al, Fabric Genomics

ACMG 2017 Poster #411

Posters

Fabric Genomics’ Opal Clinical Variant Interpretation Platform Enables Rapid Whole Genome Analysis Turnaround in Under an Hour

Anthony Fejes, Ph.D. et al, Fabric Genomics

ACMG 2017 Poster #291
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Posters

Precision Medicine Successes From the Undiagnosed Diseases Network (UDN)

John Phillips III, M.D. et al, Vanderbilt University Medical Center & UDN

ACMG 2017 Poster #334
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Posters

Sequence to Clinical Report: Enabling Rapid Variant Analysis and Clinical Interpretation for Somatic NGS Testing

Ritu Kamal, et al, Fabric Genomics

CAP 2017 Poster #102
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Posters

Speeding clinical reporting of targeted sequencing of cancer gene-panels through seamless integration of data quality control, mutation genomic and clinical annotations, and drug sensitivity options

Francisco M. De La Vega, et al, Fabric Genomics

ESHG 2018 Poster

Posters

An improved probabilistic disease-association method to identify common and rare disease associated variants from large-scale case/control association studies by next-generation sequencing

Francisco M. De La Vega, et al, Fabric Genomics

Keystone Symposium: One Million Genomes: From Discovery to Health 2018 Poster

Posters

Yield of Clinically Relevant Candidates in Family Genomes in the UK 100,000 Genomes Project Using the Fabric Genomics Platform

Melanie Babcock, et al, Fabric Genomics

ESHG 2018 Poster

Posters

An Artificial Intelligence Engine for High-Throughput Matching of Genetic Variants to their ACMG/AMP Classification for Inherited Disease Gene Panels

Francisco M. De La Vega, et al, Fabric Genomics

ACMG 2019 poster

Posters

An Artificial Intelligence Based Approach for Rapid Diagnosis of NICU Patients

Francisco M. De La Vega, et al, Fabric Genomics

AMP Europe 2021 Poster