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

. 2015 Oct;1(1):a000422. doi: 10.1101/mcs.a000422

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

© 2015 Jiménez-Barrón et al.; Published by Cold Spring Harbor Laboratory Press

This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License, which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.

PMC Copyright notice

Figure 2. — A conceptual map of human sequence variation. Here, we show approximate sizes, as well as the associated signature, of the various different types of human sequence variation that can be currently detected with whole-genome sequencing (WGS), microarray data, and informatics technologies used in this work. The frequency axis shows the approximate frequency of the various genetic variation types that are currently detectable via germline WGS combined with microarray data. Above the visual signatures of the different types of human sequence variation, the general names of the different informatics software tools for detecting the variation are noted which include, the Genome Analysis Toolkit (GATK), Scalpel, PennCNV, the estimation by read depth with single-nucleotide variants (ERDS) CNV caller, and the FreeBayes caller.