Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Author:

Scocchia Alicia, ,Wigby Kristen M.,Masser-Frye Diane,Del Campo Miguel,Galarreta Carolina I.,Thorpe Erin,McEachern Julia,Robinson Keisha,Gross Andrew,Ajay Subramanian S.,Rajan Vani,Perry Denise L.,Belmont John W.,Bentley David R.,Jones Marilyn C.ORCID,Taft Ryan J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference20 articles.

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2. Verma, I. C. & Puri, R. D. Global burden of genetic disease and the role of genetic screening. Semin. Fetal Neonatal Med. 20, 354–363 (2015).

3. Schieppati, A., Henter, J. I., Daina, E. & Aperia, A. Why rare diseases are an important medical and social issue. Lancet 371, 2039–2041 (2008).

4. Modell, B. & Kuliev, A. The history of community genetics: the contribution of the haemoglobin disorders. Community Genet. 1, 3–11 (1998).

5. McCandless, S. E., Brunger, J. W. & Cassidy, S. B. The burden of genetic disease on inpatient care in a children’s hospital. Am. J. Hum. Genet. 74, 121–127 (2004).

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