Literature DB >> 27899421

The importance of dynamic re-analysis in diagnostic whole exome sequencing.

Anna C Need1, Vandana Shashi2, Kelly Schoch2, Slavé Petrovski3,4, David B Goldstein3.   

Abstract

Keywords:  Diagnosis; bioinformatics; coverage; exome; yield

Mesh：

Year:  2016        PMID： 27899421     DOI： 10.1136/jmedgenet-2016-104306

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  14 in total

1.  Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.

Authors:  Michael Zech; Robert Jech; Matias Wagner; Tobias Mantel; Sylvia Boesch; Michael Nocker; Angela Jochim; Riccardo Berutti; Petra Havránková; Anna Fečíková; David Kemlink; Jan Roth; Tim M Strom; Werner Poewe; Evžen Růžička; Bernhard Haslinger; Juliane Winkelmann
Journal:  Neurogenetics       Date:  2017-08-28       Impact factor: 2.660

2.  Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

Authors:  Gregory Costain; Rebekah Jobling; Susan Walker; Miriam S Reuter; Meaghan Snell; Sarah Bowdin; Ronald D Cohn; Lucie Dupuis; Stacy Hewson; Saadet Mercimek-Andrews; Cheryl Shuman; Neal Sondheimer; Rosanna Weksberg; Grace Yoon; M Stephen Meyn; Dimitri J Stavropoulos; Stephen W Scherer; Roberto Mendoza-Londono; Christian R Marshall
Journal:  Eur J Hum Genet       Date:  2018-02-16       Impact factor: 4.246

Review 3.  Genomic medicine for kidney disease.

Authors:  Emily E Groopman; Hila Milo Rasouly; Ali G Gharavi
Journal:  Nat Rev Nephrol       Date:  2018-01-08       Impact factor: 28.314

4.  The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK).

Authors:  Erin Zampaglione; Matthew Maher; Emily M Place; Naomi E Wagner; Stephanie DiTroia; Katherine R Chao; Eleina England; Broad Cmg; Andrew Catomeris; Sherwin Nassiri; Seraphim Himes; Joey Pagliarulo; Charles Ferguson; Eglé Galdikaité-Braziené; Brian Cole; Eric A Pierce; Kinga M Bujakowska
Journal:  Genet Med       Date:  2021-11-30       Impact factor: 8.864

5.  A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.

Authors:  Rauan Kaiyrzhanov; Akbota Aitkulova; Jana Vandrovcova; David Murphy; Nazira Zharkinbekova; Chingiz Shashkin; Vadim Akhmetzhanov; Gulnaz Kaishibayeva; Altynay Karimova; Zhanybek Myrzayev; Malgorzata Murray; Talgat Khaibullin; John Hardy; Henry Houlden
Journal:  Mol Genet Genomic Med       Date:  2021-04-05       Impact factor: 2.473

6.  Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability.

Authors:  Ji Yoon Han; In Goo Lee
Journal:  Clin Exp Pediatr       Date:  2019-11-04

7.  Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Authors:  Jakub Piotr Fichna; Anna Macias; Marcin Piechota; Michał Korostyński; Anna Potulska-Chromik; Maria Jolanta Redowicz; Cezary Zekanowski
Journal:  Hum Genomics       Date:  2018-07-03       Impact factor: 4.639

8.  The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.

Authors: 
Journal:  Epilepsia       Date:  2019-04-05       Impact factor: 5.864

9.  Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.

Authors:  Dongheon Surl; Saeam Shin; Seung-Tae Lee; Jong Rak Choi; Junwon Lee; Suk Ho Byeon; Sueng-Han Han; Hyun Taek Lim; Jinu Han
Journal:  Mol Vis       Date:  2020-02-24       Impact factor: 2.367

10.  Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Authors:  Loren D M Pena; Yong-Hui Jiang; Kelly Schoch; Rebecca C Spillmann; Nicole Walley; Nicholas Stong; Sarah Rapisardo Horn; Jennifer A Sullivan; Allyn McConkie-Rosell; Sujay Kansagra; Edward C Smith; Mays El-Dairi; Jane Bellet; Martha Ann Keels; Joan Jasien; Peter G Kranz; Richard Noel; Shashi K Nagaraj; Robert K Lark; Daniel S G Wechsler; Daniela Del Gaudio; Marco L Leung; Laura G Hendon; Collette C Parker; Kelly L Jones; David B Goldstein; Vandana Shashi
Journal:  Genet Med       Date:  2017-09-14       Impact factor: 8.822
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