Asset Details

MbrlCatalogueTitleDetail

Do you wish to reserve the book?

Clinical application of whole-exome sequencing across clinical indications

by Retterer, Kyle , Millan, Francisca , Gibellini, Federica , Vertino-Bell, Annette , Monaghan, Kristin G. , Bai, Renkui , Suchy, Sharon , Pineda-Alvarez, Daniel , Brandt, Tracy , Smaoui, Nizar , McKnight, Dianalee , Juusola, Jane , Tahiliani, Jackie , Vitazka, Patrik , Neidich, Julie , Chung, Wendy K. , Bale, Sherri , Cho, Megan T. , Haverfield, Eden , Friedman, Bethany , Richard, Gabriele

in 631/208/1516 / 631/208/514/1948 / 692/700/139 / Biomedicine / Exome - genetics / Genetic Diseases, Inborn - classification / Genetic Diseases, Inborn - diagnosis / Genetic Diseases, Inborn - epidemiology / Genetic Diseases, Inborn - genetics / Genomics / High-Throughput Nucleotide Sequencing - methods / Human Genetics / Humans / Laboratory Medicine / Mutation / original-research-article / Sequence Analysis, DNA - methods

2016

Yes Please

Hey, we have placed the reservation for you!

By the way, why not check out events that you can attend while you pick your title.

Oops! Something went wrong.

Looks like we were not able to place the reservation. Kindly try again later.

Are you sure you want to remove the book from the shelf?

Clinical application of whole-exome sequencing across clinical indications

2016

Confirm

Do you wish to request the book?

Clinical application of whole-exome sequencing across clinical indications

2016

Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy

How would you like to get it?

Submit

We have requested the book for you!

Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.

Oops! Something went wrong.

Looks like we were not able to place your request. Kindly try again later.

Journal Article

Clinical application of whole-exome sequencing across clinical indications

Retterer, Kyle,

Millan, Francisca,

Gibellini, Federica,

Vertino-Bell, Annette,

Monaghan, Kristin G.,

Bai, Renkui,

Suchy, Sharon,

Pineda-Alvarez, Daniel,

Brandt, Tracy,

Smaoui, Nizar,

McKnight, Dianalee,

Juusola, Jane,

Tahiliani, Jackie,

Vitazka, Patrik,

Neidich, Julie,

Chung, Wendy K.,

Bale, Sherri,

Cho, Megan T.,

Haverfield, Eden,

Friedman, Bethany,

Richard, Gabriele

2016

Overview

We report the diagnostic yield of whole-exome sequencing (WES) in 3,040 consecutive cases at a single clinical laboratory. WES was performed for many different clinical indications and included the proband plus two or more family members in 76% of cases. The overall diagnostic yield of WES was 28.8%. The diagnostic yield was 23.6% in proband-only cases and 31.0% when three family members were analyzed. The highest yield was for patients who had disorders involving hearing (55%, N = 11), vision (47%, N = 60), the skeletal muscle system (40%, N = 43), the skeletal system (39%, N = 54), multiple congenital anomalies (36%, N = 729), skin (32%, N = 31), the central nervous system (31%, N = 1,082), and the cardiovascular system (28%, N = 54). Of 2,091 cases in which secondary findings were analyzed for 56 American College of Medical Genetics and Genomics–recommended genes, 6.2% (N = 129) had reportable pathogenic variants. In addition to cases with a definitive diagnosis, in 24.2% of cases a candidate gene was reported that may later be reclassified as being associated with a definitive diagnosis. Our experience with our first 3,040 WES cases suggests that analysis of trios significantly improves the diagnostic yield compared with proband-only testing for genetically heterogeneous disorders and facilitates identification of novel candidate genes.

Share this book

Add to My Shelf

Publisher

Elsevier Inc,Nature Publishing Group US,Elsevier Limited

Subject

/ Genetic Diseases, Inborn - classification

/ Genetic Diseases, Inborn - diagnosis