Applications of long-read sequencing to Mendelian genetics

被引：0
作者：
Francesco Kumara Mastrorosa
Danny E. Miller
Evan E. Eichler
机构：
[1] University of Washington School of Medicine,Department of Genome Sciences
[2] University of Washington and Seattle Children’s Hospital,Division of Genetic Medicine, Department of Pediatrics
[3] University of Washington,Department of Laboratory Medicine and Pathology
[4] University of Washington,Brotman Baty Institute for Precision Medicine
[5] Howard Hughes Medical Institute,undefined
[6] University of Washington,undefined
来源：
Genome Medicine | / 15卷
关键词：
Long-read sequencing; Genetic variation; Medical genetics; Structural variation; Mendelian disorders;
D O I：
暂无
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摘要：
Advances in clinical genetic testing, including the introduction of exome sequencing, have uncovered the molecular etiology for many rare and previously unsolved genetic disorders, yet more than half of individuals with a suspected genetic disorder remain unsolved after complete clinical evaluation. A precise genetic diagnosis may guide clinical treatment plans, allow families to make informed care decisions, and permit individuals to participate in N-of-1 trials; thus, there is high interest in developing new tools and techniques to increase the solve rate. Long-read sequencing (LRS) is a promising technology for both increasing the solve rate and decreasing the amount of time required to make a precise genetic diagnosis. Here, we summarize current LRS technologies, give examples of how they have been used to evaluate complex genetic variation and identify missing variants, and discuss future clinical applications of LRS. As costs continue to decrease, LRS will find additional utility in the clinical space fundamentally changing how pathological variants are discovered and eventually acting as a single-data source that can be interrogated multiple times for clinical service.
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