Asset Details
Do you wish to reserve the book?
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
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?
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
Do you wish to request the book?
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
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
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
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
2020
Overview
Purpose
Spinal muscular atrophy (SMA), caused by loss of the
SMN1
gene, is a leading cause of early childhood death. Due to the near identical sequences of
SMN1
and
SMN2
, analysis of this region is challenging. Population-wide SMA screening to quantify the
SMN1
copy number (CN) is recommended by the American College of Medical Genetics and Genomics.
Methods
We developed a method that accurately identifies the CN of
SMN1
and
SMN2
using genome sequencing (GS) data by analyzing read depth and eight informative reference genome differences between
SMN1/2
.
Results
We characterized
SMN1/2
in 12,747 genomes, identified 1568 samples with
SMN1
gains or losses and 6615 samples with
SMN2
gains or losses, and calculated a pan-ethnic carrier frequency of 2%, consistent with previous studies. Additionally, 99.8% of our
SMN1
and 99.7% of
SMN2
CN calls agreed with orthogonal methods, with a recall of 100% for SMA and 97.8% for carriers, and a precision of 100% for both SMA and carriers.
Conclusion
This
SMN
copy-number caller can be used to identify both carrier and affected status of SMA, enabling SMA testing to be offered as a comprehensive test in neonatal care and an accurate carrier screening tool in GS sequencing projects.
Publisher
Nature Publishing Group US,Elsevier Limited
