VizCNV: An integrated platform for CNV detection and analysis of genome sequencing data |
Du, Haowei |
ASHG - American Society of Human Genetics Annual Meeting |
11/2/2023 |
|
PB3523 |
Using Multiplexed Functional Data to Reduce the VUS Burden in Populations Underrepresented in Genomic Medicine |
Dawood, Moez |
ACMG - American College of Medical Genetics and Genomics |
March 12-16, 2024 |
|
Featured Platform Presentations: 14-Mar-2024 8:00 AM |
Variants in Cohesin Release Factors WAPL, PDS5A, and PDS5B Define a New Class of Cohesinopathies |
Boone, Philip |
ACMG |
March 14-17, 2023 |
|
159 |
Applying the 2022 Guidelines for Non-Coding Variant Classification In a Large Rare Disease Cohort |
Groopman, Emily |
ACMG - American College of Medical Genetics and Genomics |
March 14-18 |
|
P474 |
Developing a Framework for Sequence Variant Interpretation for Multiple X-linked Inborn Errors of Metabolism: The ClinGen IEM Working Group Experience |
Groopman, Emily |
ACMG - American College of Medical Genetics and Genomics |
March 14-18 |
|
O04 |
Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females |
Miller, Danny |
ACMG - American College of Medical Genetics and Genomics |
March 14-18, 2023 |
|
P672 |
New approaches to increase rare disease diagnoses in GREGoR |
Montgomery, Stephen |
Genomics of Rare Disease |
March 23-26, 2023 |
|
Not available |
Identification of TUBGCP2 and CAMSAP1 as novel neuronal migration disorder associated genes |
Mitani, Tadahiro |
65th Annual Meeting of the Japanese Society of Child Neurology |
May 25-27, 2023 |
|
NA |
Heterozygous Loss-of-Function Variants in SMC3: Lessons for the ‘Medium-Hanging Fruit’ Era of Mendelian Disease Gene Discovery |
Boone, Philip |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-4, 2023 |
|
2023-A-1559-ASHG |
Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing |
Cohen, Andrea J. |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
2023-A-3728-ASHG |
Most genes are predicted to be Mendelian disease genes: implications for rare and common diseases |
Chong, Jessica |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
PB4876 |
Relative contribution of variant prioritization and phenotype similarity to performance of automatic genome analysis algorithms |
Khanam, Shirin |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
PB3269 |
Diagnostic Utility of Genome-wide DNA Methylation Screening to Identify Molecular Causes of Genetically Unsolved Developmental and Epileptic Encephalopathies |
LaFlamme, Christy |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
Sat Nov 4 10:45am-11am Presenter 004 |
A multi-omics approach to the characterization of a novel repeat expansion in FAM193B in a family with oculopharyngodistal myopathy |
Reuter, Chloe |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
TBD |
Driver project for advancing long-read de novo genome assembly methods in clinical research |
Délot, Emmanuèle |
ASHG |
Nov 1-5, 2023 |
|
2023-A-4146-ASHG |