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Article

High Throughput Sequencing and Assessing Disease Risk.

Cold Spring Harbor perspectives in medicine - 2 Jan 2019

Rego Shannon M, Snyder Michael P

Abstract excerpt

High-throughput sequencing has dramatically improved our ability to determine and diagnose the underlying causes of human disease. The use of whole-genome and whole-exome sequencing has facilitated faster and more cost-effective identification of new genes implicated in Mendelian disease. It has also improved our ability to identify disease-causing mutations for Mendelian diseases whose associated genes are...

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PMID: 29959131
DOI: 10.1101/cshperspect.a026849
PMCID: PMC6314070

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