Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2019 Oct 15;12(10):e002694. doi: 10.1161/CIRCGEN.119.002694

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© 2019 The Authors.

Circulation: Genomic and Precision Medicine is published on behalf of the American Heart Association, Inc., by Wolters Kluwer Health, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution, and reproduction in any medium, provided that the original work is properly cited.

PMC Copyright notice

Figure 4. — Filtering process using large-scale genomic data resources. Both graphs are in logarithmic scale and represent the consecutive filtering of the genes using the different metrics for (A) deleted (DEL) and both copy number variant (CNV) genes (B) duplicated (DUP) and both CNV genes. There is ≈70% reduction in the number of candidate genes when we apply the evolutionary duplication metric—ohnolog. Also, none of our candidates were present in the list of homozygously deleted genes (nonessential) from the Sudmant study as well as not present in the list of genes curated from the DDD study. LoF indicates loss-of-function; OMIM, Online Mendelian Inheritance in Man; pHI, probability of haploinsuffieciency; and pLI, probability of loss-of-function intolerance.