Rigoletto

De cada obra s'ha digitalitzat un programa sencer. De la resta s'han digitalitzat les parts que són diferents.Director: José Sabate

List of regions displaying significant deficit of homozygotes.

<p>Homoz: homozygote, freq: frequency. Only regions with Chi-square test p-values lower than 10⁻⁴ are shown except HH2 (italic), previously reported by <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0065550#pone.0065550-VanRaden1" target="_blank">[13]</a>.</p

Loss in calving rate in matings between carrier sires and daughters of carrier sires.

*<p>p<0.05, **p<0.01 and ***p<0.001 versus control group (t-test). Haplotypes with significant negative effects on conception rate in both heifers and adult cows in matings at risk are shown in bold type. Nb: number. a: no mating at risk was observed between carriers of these haplotypes and daughters of carrier bulls during the period of time studied (see methods).</p

List of candidate mutations for embryonic lethal defects.

*<p>: mutations with damaging predicted effect on the structure and function of the protein. In bold are shown the strongest candidate mutations for each haplotype. Mutation g.49942403T>C, predicted to affect BCAR3 splicing, was not retained as a plausible causative mutation since deficiency in BCAR3 is not lethal in mouse <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0065550#pone.0065550-Near1" target="_blank">[17]</a>. MIS18A p.C13Y substitution was also not retained as a plausible causative mutation as described in the manuscript.</p

MOESM9 of Identification of copy number variation in French dairy and beef breeds using next-generation sequencing

Additional file 9: Table S8. Summary of validated variants by the different approaches. This is an inventory of validated variants using the two in silico and/or array-based CGH approaches. This dataset was the final subset of variants retained in this study. Information about breeds and validation approaches that support each variant is indicated

Chromosomal distribution of large SVs.

<p>Histogram showing the distribution of SVs within bovine chromosomes. Deletions are shown in blue, inversions in red and tandem duplications in green.</p

SV distribution among the 62 sequenced animals.

<p>Histogram showing the distribution of SVs among all 62 sequenced animals. Frequencies of SVs present in more than 16 sequenced samples were too low to be visualized and were therefore drawn in a separate graph embedded in the first one.</p

Small indels identified with GATK and Pindel.

<p>Venn diagram summarizing small indels identified by GATK and by Pindel.</p

Distribution of SVs found within the three breeds.

<p>Venn diagram showing shared and unique SVs between the 3 breeds.</p

Breed distribution of animals used in the validation study.

<p>Table 1 summarizes the sample panel that was used for genotyping assays.</p><p>Breed distribution of animals used in the validation study.</p