P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis

P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis

Saved in:

Bibliographic Details
Main Authors:	Christina Tse, Kaileigh Ahlquist, Matthew Welland, Paul de Fazio, Cas Simons, Lynn Pais, Giles Hall, Jeremiah Wander, Greg Smith, Laura Gauthier, Anne O'Donnell-Luria, Daniel MacArthur, Zornitza Stark, Heidi Rehm, Kaitlin Samocha
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774425010556
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Phosphorylation of the actin binding protein Drebrin at S647 is regulated by neuronal activity and PTEN.
by: Patricia Kreis, et al.
Published: (2013-01-01)

Avaliação clinico-quantitativa da ação do Ciba 34.647-Ba sobre a espasticidade
by: Israel Roitman, et al.
Published: (1977-12-01)

Elevated Expression of STAT6, ERG, and miR-647 Expression as Predictive Biomarkers for Prostate Cancer
by: Yuan HZ, et al.
Published: (2025-04-01)

P199: Neurocognitive profile of ODLURO syndrome: Emergent overlapping trends across KMT2 disorders
by: Rowena Ng, et al.
Published: (2025-01-01)

WCN24-647 MONITORING DIABETIC KIDNEY DISEASE USING THE NORA MOBILE APP. PILOT STUDY RESULTS
by: Maria Jose Soler, et al.
Published: (2024-04-01)

Diagnostic and prognostic value of long non-coding RNA PROX1‑AS1 and miR-647 expression in gastric cancer
by: E. A. Vetchinkina, et al.
Published: (2022-12-01)

Smallpox and Season: Reanalysis of Historical Data
by: Hiroshi Nishiura, et al.
Published: (2009-01-01)

Cognitive Effects of Carbamazepine and Phenytoin: Reanalysis
by: J Gordon Millichap
Published: (1991-02-01)

Comparison of the sequence-dependent fluorescence of the cyanine dyes Cy3, Cy5, DyLight DY547 and DyLight DY647 on single-stranded DNA.
by: Nicole Kretschy, et al.
Published: (2014-01-01)

Reanalysis on Performance of Microwave Phase Detector for Multisignals
by: Jing Deng, et al.
Published: (2024-12-01)

Potentially preventable hospitalisations for Aboriginal children with experience of out-of-home care: a data linkage study
by: Benjamin Harrap, et al.
Published: (2025-06-01)

Blurring the lines: an empirical examination of the interrelationships among acceptability, appropriateness, and feasibility
by: Zoe Fehlberg, et al.
Published: (2024-12-01)

Recent warming trends in Antarctica revealed by multiple reanalysis
by: Sai Wang, et al.
Published: (2025-06-01)

Reanalysis of summer pressure systems affecting Iran\'s atmosphere
by: mahdi khazaei
Published: (2021-12-01)

Correction: Belisario et al. ABCA1/ABCB1 Ratio Determines Chemo- and Immune-Sensitivity in Human Osteosarcoma. <i>Cells</i> 2020, <i>9</i>, 647
by: Dimas Carolina Belisario, et al.
Published: (2025-04-01)

Revisiting the moisture budget of the Mediterranean region in the ERA5 reanalysis
by: R. Tootoonchi, et al.
Published: (2025-02-01)

P257: ClinVar-based reanalysis in the UDN cohort
by: Alistair Ward, et al.
Published: (2025-01-01)

A reanalysis of event shape distributions in electron-positron annihilation
by: Zhu-Yu Ren, et al.
Published: (2025-07-01)

Forty-year hydropower generation reanalysis for Conterminous United States
by: Sean W. D. Turner, et al.
Published: (2025-06-01)

Applicability Evaluation of Antarctic Ozone Reanalysis and Merged Satellite Datasets
by: Junzhe Chen, et al.
Published: (2025-06-01)

Atmospheric Rivers in Africa Observed with GNSS-RO and Reanalysis Data
by: Linda Martina Maier, et al.
Published: (2025-04-01)

Reanalysis of Ωc→Ξc+K- Decay in QCD
by: T. M. Aliev, et al.
Published: (2018-01-01)

Analysis of public perceptions on the use of artificial intelligence in genomic medicine
by: Jack E. Harrison, et al.
Published: (2024-11-01)

Correction: Ramos and Vu (2024). Research, Science Identity, and Intent to Pursue a Science Career: A BUILD Intervention Evaluation at CSULB. <i>Education Sciences</i>, <i>14</i>(6), 647
by: Hector V. Ramos, et al.
Published: (2025-07-01)

Reanalysis of the Spin Direction Distribution of Galaxy Zoo SDSS Spiral Galaxies
by: Darius Mcadam, et al.
Published: (2023-01-01)

ERA5–Drought: Global drought indices based on ECMWF reanalysis
by: Jessica Keune, et al.
Published: (2025-04-01)

Assessing the role of selenium in Minamata disease through reanalysis of historical samples
by: Mineshi Sakamoto, et al.
Published: (2025-01-01)

Estimating Subseasonal Variability and Trends in Global Atmosphere Using Reanalysis Data
by: N. Žagar, et al.
Published: (2018-12-01)

Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations
by: Lingxia Zhang, et al.
Published: (2022-01-01)

Improved SST‐Precipitation Intraseasonal Relationships in the ECMWF Coupled Climate Reanalysis
by: Xiangbo Feng, et al.
Published: (2018-04-01)

Structural Reanalysis Based on FRFs Using Sherman–Morrison–Woodbury Formula
by: Jun Ren, et al.
Published: (2020-01-01)

MERIDA HRES: A new high‐resolution reanalysis dataset for Italy
by: Francesca Viterbo, et al.
Published: (2024-11-01)

Bayesian Reanalysis of Statistically Nonsignificant Outcomes in Plastic Surgery Clinical Trials
by: Gordon C. Wong, MBBS, MRCS, et al.
Published: (2024-12-01)

Reanalysis of the MACHO Constraints on PBH in the Light of Gaia DR3 Data
by: Juan García-Bellido, et al.
Published: (2024-12-01)

P648: Automated reanalysis of clinical genomic data in undiagnosed patients
by: Shira Rockowitz, et al.
Published: (2025-01-01)

Single‐Column Emulation of Reanalysis of the Northeast Pacific Marine Boundary Layer
by: J. McGibbon, et al.
Published: (2019-08-01)

Thematic Reanalysis in the Left Posterior Parietal Sulcus: A TMS Study
by: Chiara Finocchiaro, et al.
Published: (2021-07-01)

“They said I came back Americanized”: cosmopolitanism and mediation in the trajectory of Carmen Miranda
by: Julia O’Donnell
Published: (2015-05-01)

Root Causes and Deep Drivers of Global Turbulence
by: Francis O’Donnell
Published: (2025-07-01)

Thinking Culture in Legal Education
by: Anthony O'Donnell
Published: (1996-01-01)