Journal Article

Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays

Erinija Pranckeviciene; Lemuel Racacho; Mahdi Ghani; Landry Nfonsam; Ryan Potter; Elizabeth Sinclair-Bourque; Gabrielle Mettler; Amanda Smith; Lucas Bronicki; Lijia Huang; Olga Jarinova

Human Genetics · Vol. 140, Issue 2 · pp. 289-297 · 2021

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Abstract

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Bibliographic Information

Journal	Human Genetics
Publisher	Springer
Publication Date	2021-02-01
Publication Year	2021
Volume	140
Issue	2
Pages	289-297
Document Type	Journal Article
Print ISSN	0340-6717
eISSN	1432-1203
DOI	10.1007/s00439-020-02201-y

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NARA Access Coverage	1964-01-01~Current
Journal Homepage	https://www.springer.com/journal/439
Publisher Page	Open Publisher Page

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