Hotspots of Large Rare Deletions in the Human Genome

Open Access

Peer-reviewed

Research Article

W. Edward C. Bradley ,

* E-mail: edward.bradley@umontreal.ca

Affiliation Department of Medicine, Université de Montréal, Montréal, Quebec, Canada
⨯
John V. Raelson ,

Contributed equally to this work with: John V. Raelson, Daniel Y. Dubois

Affiliation Genizon Biosciences, Inc., St. Laurent, Quebec, Canada
⨯
Daniel Y. Dubois ,

Contributed equally to this work with: John V. Raelson, Daniel Y. Dubois

Affiliation Genizon Biosciences, Inc., St. Laurent, Quebec, Canada
⨯
Éric Godin,

Affiliation Genizon Biosciences, Inc., St. Laurent, Quebec, Canada
⨯
Hélène Fournier,

Affiliation Genizon Biosciences, Inc., St. Laurent, Quebec, Canada
⨯
Charles Privé,

Affiliation Genizon Biosciences, Inc., St. Laurent, Quebec, Canada
⨯
René Allard,

Affiliation Genizon Biosciences, Inc., St. Laurent, Quebec, Canada
⨯
Vadym Pinchuk,

Affiliation Genizon Biosciences, Inc., St. Laurent, Quebec, Canada
⨯
Micheline Lapalme,

Affiliation Genizon Biosciences, Inc., St. Laurent, Quebec, Canada
⨯
René J. A. Paulussen,

Affiliation Genizon Biosciences, Inc., St. Laurent, Quebec, Canada
⨯
Abdelmajid Belouchi

Affiliations Department of Medicine, Université de Montréal, Montréal, Quebec, Canada, Genizon Biosciences, Inc., St. Laurent, Quebec, Canada
⨯

Reader Comments

I cannot tell from the article how it was determined that the reported deletions were rare. Were known common variants excluded in some way?

No competing interests declared.

In the last paragraph of the main text it is mentioned that rare deletions are (arbitrarily) taken as no more than 2 occurrences per 500 individuals.

No competing interests declared.

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