Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations

Nicola Whiffin^{1

2

3

4}, James S Ware^{1

2

3

4}, Anne O'Donnell-Luria^{4

5

6}

Affiliations

¹ National Heart and Lung Institute, Imperial College London, London, United Kingdom.
² Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, London, United Kingdom.
³ MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom.
⁴ Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
⁵ Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
⁶ Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston.

Nicola Whiffin et al. JAMA. 2019.

. 2019 Oct 1;322(13):1305-1306.

doi: 10.1001/jama.2019.12891.

Nicola Whiffin^{1

2

3

4}, James S Ware^{1

2

3

4}, Anne O'Donnell-Luria^{4

5

6}

¹ National Heart and Lung Institute, Imperial College London, London, United Kingdom.
² Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, London, United Kingdom.
³ MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom.
⁴ Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
⁵ Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
⁶ Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston.

No abstract available

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