A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics

A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics

Establishing or ruling out a molecular diagnosis of Prader–Willi or Angelman syndrome (PWS/AS) presents unique challenges due to the variety of different genetic alterations that can lead to these conditions. Point mutations, copy number changes, uniparental isodisomy (i-UPD) 15 of two subclasses (s...

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Bibliographic Details
Main Authors: Samuel P. Strom, Waheeda A. Hossain, Melina Grigorian, Mickey Li, Joseph Fierro, William Scaringe, Hai-Yun Yen, Mirandy Teguh, Joanna Liu, Harry Gao, Merlin G. Butler
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Genetics
Subjects:
streamlined molecular diagnostics
whole-exome sequencing
copy number variants
point mutations
methylation status
Prader–Willi syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.608889/full

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