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

. 2023 Jun 10;21:378. doi: 10.1186/s12967-023-04243-y

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

© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

PMC Copyright notice

Fig. 2 — Examples of copy number variants (CNVs) identified by our pipeline. A Scatter plot of the regional mean depth for a Coriell sample (NA04099/SM4716) known to carry a deletion. A point was plotted for each of the five control regions, the two pad regions, and the deleted region. Each plotted point denotes the mean depth of the region normalized by either the mean depth across all control regions (left side of plot) or the mean depth across all control and pad regions (right side of plot). For each normalization approach, dashed lines are plotted to indicate three standard deviations from the mean of the normalized control regions (gray) and the normalized control and pad regions (green). B Read depth plot for a Coriell sample (NA04099/SM4716) known to carry a deletion. The mean depth in the deleted region was normalized by the mean depth across all control regions, calculated in non-overlapping windows that were 1% of the target size. The red dashed line indicates the mean depth ratio across the deleted region, and the green dashed lines indicate the mean depth ratios of the pad regions directly adjacent to the deleted region. C Scatter plot of the regional mean depth for a blood sample (Individual_5/SM7419) from a healthy individual known to carry a duplication. D Read depth plot for a blood sample (Individual_5/SM7419) from a healthy individual known to carry a duplication