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Article

Importance of complete phenotyping in prenatal whole exome sequencing.

Human genetics - 1 Feb 2018

Aarabi Mahmoud, Sniezek Olivia, Jiang Huaiyang, Saller Devereux N, Bellissimo Daniel, Yatsenko Svetlana A, Rajkovic Aleksandar

Abstract excerpt

Whole exome sequencing (WES) is an emerging technique in prenatal diagnosis. In this retrospective study, we examined diagnostic utility and limitations of WES in prenatal cases with structural birth defects. DNA from 20 trios (fetal and parental), with normal karyotype and microarray findings, underwent WES and variant interpretation at a reference laboratory. The WES results were later re-evaluated in our...

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PMID: 29392406
DOI: 10.1007/s00439-017-1860-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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