Reply to 'Selective effects of heterozygous protein-truncating variants'

Christopher A Cassa^#^{1

2

3}, Donate Weghorn^#^{1

2

4}, Daniel J Balick^#^{1

2}, Daniel M Jordan^#⁵, David Nusinow¹, Kaitlin E Samocha^{6

7}, Anne O'Donnell-Luria^{6

8}, Daniel G MacArthur^{3

6}, Mark J Daly^{3

6}, David R Beier^{9

10}, Shamil R Sunyaev^{11

12

13}

Affiliations

¹ Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
² Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
³ Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA.
⁴ Centre for Genomic Regulation, Barcelona, Spain.
⁵ Department of Genetic and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
⁶ Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
⁷ Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA.
⁸ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
⁹ Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA. david.beier@seattlechildrens.org.
¹⁰ Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. david.beier@seattlechildrens.org.
¹¹ Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. ssunyaev@rics.bwh.harvard.edu.
¹² Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. ssunyaev@rics.bwh.harvard.edu.
¹³ Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA. ssunyaev@rics.bwh.harvard.edu.

^# Contributed equally.

PMID: 30478437
PMCID: PMC9196138
DOI: 10.1038/s41588-018-0301-y

Comment

Reply to 'Selective effects of heterozygous protein-truncating variants'

Christopher A Cassa et al. Nat Genet. 2019 Jan.

. 2019 Jan;51(1):3-4.

doi: 10.1038/s41588-018-0301-y.

Authors

Affiliations

¹ Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
² Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
³ Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA.
⁴ Centre for Genomic Regulation, Barcelona, Spain.
⁵ Department of Genetic and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
⁶ Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
⁷ Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA.
⁸ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
⁹ Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA. david.beier@seattlechildrens.org.
¹⁰ Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. david.beier@seattlechildrens.org.
¹¹ Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. ssunyaev@rics.bwh.harvard.edu.
¹² Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. ssunyaev@rics.bwh.harvard.edu.
¹³ Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA. ssunyaev@rics.bwh.harvard.edu.

^# Contributed equally.

PMID: 30478437
PMCID: PMC9196138
DOI: 10.1038/s41588-018-0301-y

No abstract available

PubMed Disclaimer

Conflict of interest statement

Competing interests

The authors declare no competing interests.

Comment on

Selective effects of heterozygous protein-truncating variants.
Charlesworth B, Hill WG. Charlesworth B, et al. Nat Genet. 2019 Jan;51(1):2. doi: 10.1038/s41588-018-0291-9. Nat Genet. 2019. PMID: 30478439 No abstract available.

References

1. Charlesworth B & Hill WG Nat. Genet. 10.1038/s41588-018-0291-9 (2018). - DOI
1. Cassa CA et al. Nat. Genet. 49, 806–810 (2017). - PMC - PubMed
1. Weghorn D et al. Preprint at https://www.biorxiv.org/content/early/2018/10/03/433961 (2018).
1. Nei M Proc. Natl Acad. Sci. USA 60, 517–524 (1968). - PMC - PubMed
1. Keinan A & Clark AG Science 336, 740–743 (2012). - PMC - PubMed

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Reply to 'Selective effects of heterozygous protein-truncating variants'

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Reply to 'Selective effects of heterozygous protein-truncating variants'

Authors

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