A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians-Reference-Cited by-同舟云学术

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

Published:2021-03 Issue:4 Volume:42 Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kausthubham Neethukrishna¹,Shukla Anju¹,Gupta Neerja²,Bhavani Gandham S.¹,Kulshrestha Samarth³,Das Bhowmik Aneek⁴⁵,Moirangthem Amita⁶,Bijarnia‐Mahay Sunita³,Kabra Madhulika²,Puri Ratna D.³^ORCID,Mandal Kausik⁶,Verma Ishwar C.³,Bielas Stephanie L.⁷^ORCID,Phadke Shubha R.⁶,Dalal Ashwin⁴,Girisha Katta M.¹^ORCID

Affiliation:

1. Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal India

2. Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences New Delhi India

3. Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital New Delhi India

4. Division of Diagnostics Centre for DNA Fingerprinting and Diagnostics Hyderabad India

5. ASPIRE (Diagnostics Facility) CSIR‐Centre for Cellular & Molecular Biology, CCMB Annexe II Hyderabad India

6. Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow India

7. Department of Human Genetics University of Michigan Medical School Ann Arbor Michigan USA

Funder

Science and Engineering Research Board

National Institutes of Health

Indian Council of Medical Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24172

Reference84 articles.

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5. Natural human knockouts and the era of genotype to phenotype

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