Scalable detection of technically challenging variants through modified next‐generation sequencing-Reference-Cited by-同舟云学术

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Scalable detection of technically challenging variants through modified next‐generation sequencing

Published:2022-10-17 Issue:12 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Rojahn Susan¹^ORCID,Hambuch Tina¹,Adrian Jessika¹,Gafni Erik¹,Gileta Alex¹,Hatchell Hannah¹,Johnson Britt¹,Kallman Ben¹,Karfilis Kate¹,Kautzer Curtis¹,Kennemer Michael¹,Kirk Lloyd¹,Kvitek Daniel¹,Lettes Jessica¹,Macrae Fenner¹,Mendez Fernando¹,Paul Joshua¹,Pellegrino Maurizio¹,Preciado Ronny¹,Risinger Jan¹,Schultz Matthew¹,Spurka Lindsay¹,Swamy Sajani¹,Truty Rebecca¹,Usem Nathan¹,Velenich Andrea¹,Aradhya Swaroop¹^ORCID

Affiliation:

1. Invitae San Francisco California USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2072

Reference42 articles.

1. Sequencing-based diagnostics for pediatric genetic diseases: progress and potential

2. College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests

3. Molecular pathology of Lynch syndrome

4. The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay

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