Interpretable prioritization of splice variants in diagnostic next-generation sequencing-Reference-Cited by-同舟云学术

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

Published:2021-09 Issue:9 Volume:108 Page:1564-1577
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Danis Daniel,Jacobsen Julius O.B.,Carmody Leigh C.,Gargano Michael A.,McMurry Julie A.,Hegde Ayushi,Haendel Melissa A.,Valentini Giorgio,Smedley Damian,Robinson Peter N.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference53 articles.

1. Diagnostic exome sequencing in persons with severe intellectual disability;de Ligt;N. Engl. J. Med.,2012

2. Clinical whole-exome sequencing for the diagnosis of mendelian disorders;Yang;N. Engl. J. Med.,2013

3. Molecular findings among patients referred for clinical whole-exome sequencing;Yang;JAMA,2014

4. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test;Lionel;Genet. Med.,2018

5. Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions;Tan;JAMA Pediatr.,2017

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