Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype‐weighted knowledge in the CAGI SickKids5 clinical genomes challenge-Reference-Cited by-同舟云学术

Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype‐weighted knowledge in the CAGI SickKids5 clinical genomes challenge

Published:2019-11-15 Issue:2 Volume:41 Page:347-362
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Pal Lipika R.¹^ORCID,Kundu Kunal¹²^ORCID,Yin Yizhou¹^ORCID,Moult John¹³^ORCID

Affiliation:

1. Institute for Bioscience and Biotechnology ResearchUniversity of Maryland Rockville Maryland

2. Computational Biology, Bioinformatics and Genomics, Biological Sciences Graduate ProgramUniversity of Maryland College Park Maryland

3. Department of Cell Biology and Molecular GeneticsUniversity of Maryland College Park Maryland

Funder

National Institute of General Medical Sciences

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23933

Reference71 articles.

1. A method and server for predicting damaging missense mutations

2. A phenotype centric benchmark of variant prioritisation tools

3. A global reference for human genetic variation

4. Gene Ontology Consortium: going forward

5. Annotation of functional variation in personal genomes using RegulomeDB

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