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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.


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)


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)


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)