Response to Biesecker et al

Ada Hamosh¹, Joanna S Amberger², Carol A Bocchini², Joann Bodurtha², Carol J Bult³, Christopher G Chute⁴, Garry R Cutting², Harry C Dietz², Helen V Firth⁵, Richard A Gibbs⁶, Wayne W Grody⁷, Melissa A Haendel⁸, James R Lupski⁹, Jennifer E Posey¹⁰, Peter N Robinson¹¹, Lynn M Schriml¹², Alan F Scott², Nara L Sobreira², David Valle², Nan Wu¹³, Sonja A Rasmussen¹⁴

Affiliations

¹ Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. Electronic address: ahamosh@jhmi.edu.
² Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
³ The Jackson Laboratory for Mammalian Genetics, Bar Harbor, ME 04609, USA.
⁴ Johns Hopkins University Schools of Medicine, Public Health, and Nursing, Baltimore, MD 21287, USA.
⁵ Dept of Clinical Genetics, Box 134, Cambridge University Hospitals, Cambridge CB2 0QQ, UK.
⁶ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030 USA.
⁷ Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, Los Angeles, CA 90095, USA.
⁸ Center for Health Artificial Intelligence, University of Colorado Anschutz Medical School, Aurora, CO 80045, USA.
⁹ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030 USA; Texas Children's Hospital, Houston, TX 77030, USA.
¹⁰ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
¹¹ The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
¹² Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
¹³ Department of Orthopedic Surgery, Key Laboratory of Big Data for Spinal Deformities, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
¹⁴ Departments of Pediatrics, Obstetrics and Gynecology, and Epidemiology, University of Florida College of Medicine and College of Public Health and Health Professions, Gainesville, FL 32610, USA.

PMID: 34478655
PMCID: PMC8456153
DOI: 10.1016/j.ajhg.2021.07.004

Comment

Response to Biesecker et al

Ada Hamosh et al. Am J Hum Genet. 2021.

. 2021 Sep 2;108(9):1807-1808.

doi: 10.1016/j.ajhg.2021.07.004.

Authors

Affiliations

¹ Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. Electronic address: ahamosh@jhmi.edu.
² Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
³ The Jackson Laboratory for Mammalian Genetics, Bar Harbor, ME 04609, USA.
⁴ Johns Hopkins University Schools of Medicine, Public Health, and Nursing, Baltimore, MD 21287, USA.
⁵ Dept of Clinical Genetics, Box 134, Cambridge University Hospitals, Cambridge CB2 0QQ, UK.
⁶ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030 USA.
⁷ Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, Los Angeles, CA 90095, USA.
⁸ Center for Health Artificial Intelligence, University of Colorado Anschutz Medical School, Aurora, CO 80045, USA.
⁹ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030 USA; Texas Children's Hospital, Houston, TX 77030, USA.
¹⁰ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
¹¹ The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
¹² Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
¹³ Department of Orthopedic Surgery, Key Laboratory of Big Data for Spinal Deformities, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
¹⁴ Departments of Pediatrics, Obstetrics and Gynecology, and Epidemiology, University of Florida College of Medicine and College of Public Health and Health Professions, Gainesville, FL 32610, USA.

PMID: 34478655
PMCID: PMC8456153
DOI: 10.1016/j.ajhg.2021.07.004

No abstract available

PubMed Disclaimer

Comment in

Response to Hamosh et al.
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Am J Hum Genet. 2021 Sep 2;108(9):1809-1810. doi: 10.1016/j.ajhg.2021.07.006. Am J Hum Genet. 2021. PMID: 34478656 Free PMC article. No abstract available.

Comment on

A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013. Am J Hum Genet. 2021. PMID: 33417889 Free PMC article. Review.

References

1. Biesecker L.G., Adam M.P., Alkuraya F.S., Amemiya A.R., Bamshad M.J., Beck A.E., Bennett J.T., Bird L.M., Carey J.C., Chung B. A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am. J. Hum. Genet. 2021;108:8–15. - PMC - PubMed
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1. Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J., Grody W.W., Hegde M., Lyon E., Spector E., ACMG Laboratory Quality Assurance Committee Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 2015;17:405–424. - PMC - PubMed
1. Rasmussen S.A., Hamosh A., OMIM curators What’s in a name? Issues to consider when naming Mendelian disorders. Genet. Med. 2020;22:1573–1575. - PMC - PubMed
1. Cutting G.R. Annotating DNA variants is the next major goal for human genetics. Am. J. Hum. Genet. 2014;94:5–10. - PMC - PubMed

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