Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

doi:10.1101/mcs.a005231

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Article

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

Cold Spring Harbor molecular case studies - 1 Jun 2020

Miller Cecelia R, Lee Kristy, Pfau Ruthann B, Reshmi Shalini C, Corsmeier Donald J, Hashimoto Sayaka, Dave-Wala Ashita, Jayaraman Vijayakumar, Koboldt Daniel, Matthews Theodora, Mouhlas Danielle, Stein Maggie, McKinney Aimee, Grossman Tom, Kelly Benjamin J, White Peter, Magrini Vincent, Wilson Richard K, Mardis Elaine R, Cottrell Catherine E

Abstract excerpt

Exome sequencing (ES) has become an important tool in pediatric genomic medicine, improving identification of disease-associated variation due to assay breadth. Depth is also afforded by ES, enabling detection of lower-frequency mosaic variation compared to Sanger sequencing in the studied tissue, thus enhancing diagnostic yield. Within a pediatric tertiary-care hospital, we report two years of clinical ES data...

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Identifiers

PMID: 32371413
DOI: 10.1101/mcs.a005231
PMCID: PMC7304353

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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