Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia-Reference-Cited by-同舟云学术

Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia

Published:2019-09-03 Issue:11 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Barbitoff Yury A.¹²^ORCID,Skitchenko Rostislav K.¹³,Poleshchuk Olga I.¹,Shikov Anton E.¹⁴^ORCID,Serebryakova Elena A.⁵,Nasykhova Yulia A.⁵⁶,Polev Dmitrii E.⁷^ORCID,Shuvalova Anna R.⁷,Shcherbakova Irina V.⁶,Fedyakov Mikhail A.⁴,Glotov Oleg S.⁴⁵,Glotov Andrey S.⁴⁵⁶⁸^ORCID,Predeus Alexander V.¹^ORCID

Affiliation:

1. Bioinformatics Institute St. Petersburg Russia

2. Department of Genetics and Biotechnology St. Petersburg State University St. Petersburg Russia

3. ITMO University St. Petersburg Russia

4. City Hospital No. 40 St. Petersburg Russia

5. Department of Genomic Medicine D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproduction St. Petersburg Russia

6. Laboratory of Biobanking and Genomic Medicine of Institute of Translation Biomedicine St. Petersburg State University St. Petersburg Russia

7. Cerbalab LTD St. Petersburg Russia

8. Institute of Living SystemsImmanuel Kant Baltic Federal University Kaliningrad Russia

Funder

Russian Science Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.964

Reference36 articles.

1. Carrier frequency of GJB2 and GALT mutations associated with sensorineural hearing loss and galactosemia in the Russian population;Abramov D. D.;Bulletin of Russian State Medical University,2017

2. High carrier frequency of CFTR gene mutations associated with cystic fibrosis, and PAH gene mutations associated with phenylketonuria in Russian population;Abramov D. D.;Bulletin of Russian State Medical University,2015

3. Wilson's disease

4. A global reference for human genetic variation

5. Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling

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