Clinical application of whole-exome sequencing across clinical indications

Genetics in Medicine - Tập 18 Số 7 - Trang 696-704 - 2016
Kyle Retterer1, Jane Juusola1, Megan T. Cho1, Patrik Vitazka1, Francisca Millan1, Federica Gibellini1, Annette Vertino-Bell1, Nizar Smaoui1,2, Julie Neidich1,3, Kristin G. Monaghan1, Dianalee McKnight1, Renkui Bai1, Sharon Suchy1, Bethany Friedman1, Jackie Tahiliani1,4, Daniel Pineda‐Alvarez1, Gabriele Richard1, Tracy Brandt1, Eden Haverfield1,4, Wendy K. Chung5,6, Sherri J. Bale1
1GeneDx, Gaithersburg, Maryland, USA
2Takeda Pharmaceuticals International, Inc., Deerfield, Illinois, USA
3Pathway Genomics Corporation, San Diego, California, USA
4Invitae, San Francisco, California, USA
5Department of Medicine, Columbia University, New York, New York USA
6Department of Pediatrics, Columbia University, New York, New York, USA

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Tài liệu tham khảo

Xue

Iossifov

Epi

Jamuar

Zaidi

Deciphering Developmental Disorders Study

Lee

Yang

Yang

University of Virginia Health System. KING: Kinship-based INference for Gwas. 2015. http://people.virginia.edu/~wc9c/KING/.

ACMG Laboratory Quality Assurance Committee

Sebastian

Stenson

Li

Van der Auwera, 2013, From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline, Curr Protoc Bioinformatics, 11, 11.10.1

Li

Retterer

Zhang

Sheshan VE, Olshen A. DNA copy number data analysis. Bioconductor, R package version 1.44.0.

Bai

Damseh

Tham

Slavotinek

Haack

Bronicki LM, Redin C, Drunat S, et al. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur J Hum Genet; e-pub ahead of print 29 April 2015.

Lalani

Torkamani

Ruzzo

Thevenon

UK10K Consortium

Gregor

Cushion

Tanaka

Xia

DDD Study

Chung

Shang

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Genetics in Medicine

Tập 18 Số 7

696-704

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