The Undiagnosed Diseases Network at the ASHG 2020 Virtual Meeting
The Undiagnosed Diseases Network (UDN) is participating in the American Society of Human Genetics (ASHG) Virtual Meeting from October 27-30, 2020. Click here for a printable list of UDN talks and posters.
PLATFORM PRESENTATIONS
1032 – Transcriptome-directed genomic analysis accelerates diagnosis and overcomes limitations of exome sequencing and chromosomal microarray (D.R. Murdock)
1052 – Somatic Mutations in a Single Residue of UBA1 are Associated with a Severe Adult-Onset Autoinflammatory Disease (D. Beck)
1118 – Identifying rare variant combinations associated with digenic disease in Undiagnosed Diseases Network patients using machine learning (S. Mukherjee)
1300 – Personalized regulatory genomics: Identifying gene dysregulation to solve undiagnosed rare disease cases (E. McArthur)
POSTER TALK
1088 – Bi-allelic loss-of-function variants in Replication Factor C 4 (RFC4) are associated with a neurological disorder characterized by ataxia and incoordination (M. Morimoto)
ON-DEMAND POSTERS
Molecular and Cytogenetic Diagnostics
3306 – Clinical whole genome sequencing increases molecular diagnostic yields of Mendelian disorders in patients with prior negative exome evaluations (P. Liu)
3325 – Establishing molecular diagnoses for rare monogenic disease: Why do we fail? (J. Krier)
3357 – Neurodevelopmental disorders with myoclonic epilepsy in the NIH Undiagnosed Diseases Program (S. Shimada)
Mendelian Phenotypes
3089 – 8 year-old girl with hypokalemic periodic paralysis and SOFT syndrome: Novel, disease-associated variants identified in SCN4A and POC1A (L. Fernandez)
3137 – Clinical sites of the Undiagnosed Diseases Network provide unique contributions to genomic medicine and science. (V. Shashi)
3157 – Dysregulation of protein synthesis due to loss of function of PUS7 is associated with postnatal microcephaly, aggressive self-injurious behavior, speech delay, and global developmental delay (S. Han)
3191 – HIP1R may be associated with a recessive, progressive, neurologic disorder (J. A. Rosenfeld)
3201 – Infantile-onset obesity, tall stature, and macrocephaly: diagnosing atypical presentations of STX16 microdeletion-associated pseudohypoparathyroidism type 1B by genome sequencing in two sisters. (A. Xu)
3206 – Long read genome sequencing identifies a novel inherited multi-exon duplication of EHMT1 in a patient with likely Kleefstra syndrome: A case of parental mosaicism? (C. Reuter)
3234 – Predicted loss-of-function variants in SNAPC4 are associated with a pediatric neurological disorder characterized by progressive neuromuscular spasticity, developmental delay, and speech dysarthria (F. G. Frost)
Molecular Phenotyping and Omics Technologies
3491 – Assessing the utility of RNA sequencing in the diagnosis of rare Mendelian diseases. (D. E. Bonner)
Bioinformatics and Computational Approaches
2027 – Algorithm with O(N) Time Complexity for Detecting Mosaicism in DNA Samples with SNP Chip and Exome Sequencing (A. Rodriguez)
2148 – Leveraging whole genome sequencing (WGS) data in search of known and novel repeat expansion diseases in the Undiagnosed Diseases Program (UDP) (P. Houston)
2168 – NIH Undiagnosed Diseases Program data sharing, part II. Tracking case matches (D. Adams)
2179 – Platform Independent Distributed Model for the Visualization of Exome and Genome Analysis Results (B. N. Pusey)
