L
Lisa M. Pertz
Researcher at Case Western Reserve University
Publications - 3
Citations - 2029
Lisa M. Pertz is an academic researcher from Case Western Reserve University. The author has contributed to research in topics: Genome & Human genome. The author has an hindex of 3, co-authored 3 publications receiving 1979 citations.
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Journal ArticleDOI
Fine-scale structural variation of the human genome.
Eray Tüzün,Andrew J. Sharp,Jeffrey A. Bailey,Rajinder Kaul,V. Anne Morrison,Lisa M. Pertz,Eric Haugen,Hillary S. Hayden,Donna G. Albertson,Daniel Pinkel,Maynard V. Olson,Evan E. Eichler +11 more
TL;DR: This work systematically compared the human genome reference sequence with a second genome to detect intermediate-sized structural variants >8 kb in length and validated 112 of the structural variants, including several that are of biomedical relevance.
Journal ArticleDOI
Segmental Duplications and Copy-Number Variation in the Human Genome
Andrew J. Sharp,Devin P. Locke,Sean McGrath,Ze Cheng,Jeffrey A. Bailey,Rhea U. Vallente,Lisa M. Pertz,Royden A. Clark,Stuart Schwartz,Rick Segraves,Vanessa V. Oseroff,Donna G. Albertson,Daniel Pinkel,Evan E. Eichler +13 more
TL;DR: This study demonstrates that segmental duplications define hotspots of chromosomal rearrangement, likely acting as mediators of normal variation as well as genomic disease, and suggests that the consideration of genomic architecture can significantly improve the ascertainment of large-scale rearrangements.
Journal ArticleDOI
Molecular evolution of the human chromosome 15 pericentromeric region
Devin P. Locke,Zhaoshi Jiang,Lisa M. Pertz,Doriana Misceo,Nicoletta Archidiacono,Evan E. Eichler +5 more
TL;DR: In this article, a detailed molecular evolutionary analysis of 1.2 Mb from the pericentromeric region of human 15q11.2 has been presented, showing that the region has been subject to extensive interchromosomal and intrachromosomal duplications during primate evolution.