Human genome sequencing in health and disease
C Gonzaga-Jauregui, JR Lupski… - Annual review of …, 2012 - annualreviews.org
Following the “finished,” euchromatic, haploid human reference genome sequence, the
rapid development of novel, faster, and cheaper sequencing technologies is making …
rapid development of novel, faster, and cheaper sequencing technologies is making …
Human copy number variation and complex genetic disease
S Girirajan, CD Campbell… - Annual review of genetics, 2011 - annualreviews.org
Copy number variants (CNVs) play an important role in human disease and population
diversity. Advancements in technology have allowed for the analysis of CNVs in thousands …
diversity. Advancements in technology have allowed for the analysis of CNVs in thousands …
The genetics of microdeletion and microduplication syndromes: an update
Chromosomal abnormalities, including microdeletions and microduplications, have long
been associated with abnormal developmental outcomes. Early discoveries relied on a …
been associated with abnormal developmental outcomes. Early discoveries relied on a …
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs
NRXN1 microdeletions occur at a relatively high frequency and confer increased risk for
neurodevelopmental and neurobehavioral abnormalities. The mechanism that makes …
neurodevelopmental and neurobehavioral abnormalities. The mechanism that makes …