Table S2: CNV Burden Statistics for Porto Cohort- 100 kb 5p sums

LOPES, Alexandra M., et al. Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS genetics, 2013, 9. Jg., Nr. 3, S. e1003349.

Publication: https://doi.org/10.1371/journal.pgen.1003349

Description

All CNVs with call frequency less than 5 percent and greater than 100kb in size.
class:Genomic location and type of CNV (deletions or duplications)
freq:Frequency of CNV for inclusion into analysis
ncnv:Total number of calls made in this class (cases + controls)
a_rate: Average number of CNVs in azoospermic cases
c_rate: Average number of CNVs in normospermic controls
p_rate: p-value of test comparing rates in cases versus controls. P-value was calculated by logistic regression using first 10 principal components of PCA analysis as covariates
a_totkb:Average total amount of aneuploid sequence in azoospermic cases
c_totkb: Average total amount of aneuploid sequence in normospermic controls
p_totkb: p-value of test comparing total amount of aneuploid sequence in cases versus controls, cacluated by t-test

Disclaimer

The publication Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1 by Alexandra M. Lopes, Kenneth I. Aston, Emma Thompson, Filipa Carvalho, João Gonçalves, Ni Huang, Rune Matthiesen, Michiel J. Noordam, Inés Quintela, Avinash Ramu, Catarina Seabra, Amy B. Wilfert, Juncheng Dai, Jonathan M. Downie, Susana Fernandes, Xuejiang Guo, Jiahao Sha, António Amorim, Alberto Barros, Angel Carracedo, Zhibin Hu, Matthew E. Hurles, Sergey Moskovtsev, Carole Ober, Darius A. Paduch, Joshua D. Schiffman, Peter N. Schlegel, Mário Sousa, Douglas T. Carrell, Donald F. Conrad is published under an open access no derivatives license: : https://creativecommons.org/licenses/by/4.0/. Permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Curation by the MFGA team

Pie chart of selected column

Table