<p><em>answer from @maximilian-press, converted from comments:</em></p>
<ul>
<li><a href="https://www.genome.gov/genetics-glossary/Proband" rel="nofollow noreferrer">https://www.genome.gov/genetics-glossary/Proband</a></li>
<li><a href="https://www.merriam-webster.com/dictionary/proband" rel="nofollow noreferrer">https://www.merriam-webster.com/dictionary/proband</a></li>
</ul>
<blockquote>
<p>A <strong>proband</strong> is an individual affected with a disorder who is the first subject in a study (as of a genetic character in a family lineage) who brings a genetic disorder to the attention of the medical community.</p>
</blockquote>

CC BY-SA 4.0
2022-02-02T22:50:53.080Z
2022-02-02T22:50:53.080Z
gringer
<p>I am reading <a href="https://www.nature.com/articles/mp2011154" rel="nofollow noreferrer">this paper</a> regarding <em>de novo</em> CNV analysis in Schizophrenia:</p>
<blockquote>
<p>Accordingly, such CNVs must frequently occur as recurrent de novo mutations. In a sample of 662 schizophrenia <strong>proband–parent</strong> trios, we found that rare de novo CNV mutations were significantly more frequent in cases (5.1% all cases, 5.5% family history negative) compared with 2.2% among 2623 controls, confirming the involvement of de novo CNVs in the pathogenesis of schizophrenia.</p>
</blockquote>
<p>I assumed that <strong>proband</strong> stands for the sample being tested (child of the parents), however, I couldn't find an explicit definition for it. Is it just the sample being tested, or does it imply additional details?</p>

<cnv>
Definition of "proband" in CNV analysis
# Definition of "proband" in CNV analysis

(Asked by: username_0 on 2022-02-01)

I am reading [this paper](https://www.nature.com/articles/mp2011154) regarding *de novo* CNV analysis in Schizophrenia:

> Accordingly, such CNVs must frequently occur as recurrent de novo mutations. In a sample of 662 schizophrenia **proband–parent** trios, we found that rare de novo CNV mutations were significantly more frequent in cases (5.1% all cases, 5.5% family history negative) compared with 2.2% among 2623 controls, confirming the involvement of de novo CNVs in the pathogenesis of schizophrenia.

I assumed that **proband** stands for the sample being tested (child of the parents), however, I couldn't find an explicit definition for it. Is it just the sample being tested, or does it imply additional details?

**Tags:** cnv

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## 1 answers

### Answer by username_1 on 2022-02-02. Score: 1 | Accepted answer

*answer from @maximilian-press, converted from comments:*

* <https://www.genome.gov/genetics-glossary/Proband>
* <https://www.merriam-webster.com/dictionary/proband>

> A **proband** is an individual affected with a disorder who is the first subject in a study (as of a genetic character in a family lineage) who brings a genetic disorder to the attention of the medical community.


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