Abstract

Most microRNAs have a stronger inhibitory effect in estrogen receptor-negative than in estrogen receptor-positive breast cancers.

Highlights

  • Copy number variants (CNVs) account for a large proportion of genetic variation in the genome

  • 6,578 putative CNV regions were identified in the whole-genome scans of the 90 Yoruba, where a putative region had at least one detected event among the individuals; a subset of 3,850 regions showed events in at least two individuals (Table 1)

  • Based on the longest detected events at each region, the putative CNVs had a median length of approximately 4.9 kb, with 25th and 75th percentiles ranging from 1.7 kb to 15.7 kb, respectively

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Summary

Introduction

Copy number variants (CNVs) account for a large proportion of genetic variation in the genome. Subsequent studies that used higher resolution microarrays and SNP genotyping arrays detected the presence of large numbers of CNVs that are < 100 kb, with median lengths of approximately 10 kb. Higher resolution microarrays, starting with earlier low resolution bacterial artificial chromosome (BAC) arrays followed by commercially available array comparative genome hybridization (CGH) and SNP genotyping arrays, have steadily driven the discovery of new CNVs and have refined the boundaries of earlier reported CNVs. the earliest CNVs described by Sebat et al [11] and Iafrate et al [6], using BAC arrays and lower resolution oligonucleotide arrays, had median lengths of approximately 222 kb and approximately 156 kb, respectively. Redon et al [12] used both BAC arrays and SNP genotyping arrays from Affymetrix to report CNVs with median lengths of approximately 234 kb and approximately 63 kb, respectively. The McCarroll et al [14] study examined the entire genome (as represented in the whole-genome sampling of NspI and StyI restriction fragments) at approximately 2-kb resolution, and reported > 1,300 CNVs having a median length of approximately 7.4 kb

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