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Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

Giuliana Giannuzzi
Nicolas Chatron
Alexandre Reymond
ResearchOpen Access17 Jun 2022
npj Genomic Medicine

Volume: 7, P: 1-10
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

Reconstruction of the evolutionary history of the chromosome 16p11.2 locus and identification of bolA family member 2 (BOLA2) as a gene duplicated exclusively in Homo sapiens.

Xander Nuttle
Giuliana Giannuzzi
Evan E. Eichler
Research03 Aug 2016
Nature

Volume: 536, P: 205-209
The evolution and population diversity of human-specific segmental duplications

Segmental duplications in the genome are regions with the potential for the evolution of phenotypic novelties, but their cataloguing has been technically difficult. Here, the evolution and function of human duplications is characterized.

Megan Y. Dennis
Lana Harshman
Evan E. Eichler
Research17 Feb 2017
Nature Ecology & Evolution

Volume: 1, P: 1-10
Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing

An approach to localizing breakpoints with sequence-level precision employing massively parallel sequencing performed on libraries generated from haplotype-resolved chromosomes, genomic DNA, or molecular inversion probe–captured informative regions harboring paralog-distinguishing variants.

Xander Nuttle
Andy Itsara
Evan E Eichler
Protocols29 May 2014
Nature Protocols

Volume: 9, P: 1496-1513
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

Targeting unique variants in highly identical paralogous genes with molecular inversion probes followed by high-throughput sequencing will open a way to associate features in these duplicated genes with human traits.

Xander Nuttle
John Huddleston
Evan E Eichler
Research28 Jul 2013
Nature Methods

Volume: 10, P: 903-909
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

Giuliana Giannuzzi
Nicolas Chatron
Alexandre Reymond
Amendments and CorrectionsOpen Access24 May 2023
npj Genomic Medicine

Volume: 8, P: 1

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Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

The evolution and population diversity of human-specific segmental duplications

Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

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