Characteristics of de novo structural changes in the human genome

Small insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease. However, mutation rates and characteristics of de novo indels and SVs in the general population have remained largely unexplored. We report 332 validated de no...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Genome Res
Main Authors: Kloosterman, Wigard P., Francioli, Laurent C., Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y., Abdellaoui, Abdel, Lameijer, Eric-Wubbo, Moed, Matthijs H., Koval, Vyacheslav, Renkens, Ivo, van Roosmalen, Markus J., Arp, Pascal, Karssen, Lennart C., Coe, Bradley P., Handsaker, Robert E., Suchiman, Eka D., Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C., Uitterlinden, André, van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, van Ommen, GertJan B., Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Eichler, Evan E., de Bakker, Paul I.W., Ye, Kai, Guryev, Victor
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4448676/
https://ncbi.nlm.nih.gov/pubmed/25883321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.185041.114
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados