variants: De novos from published studies.

In jeremymcrae/publishedDeNovos: Published De Novos Dataset from Developmental Disorder Sequencing Studies

Description

De novo variants found within participants in published studies. The studies are:

Usage

variants

Format

A data frame with thirteen variables: person_id, sex, chrom, start_pos, end_pos, ref_allele, alt_allele, hgnc, consequence, study_code, publication_doi, study_phenotype and type

Details

Rauch et al. (2012) Lancet 380:1674-1682. Supplementary tables 2 and 3 doi: 10.1016/S0140-6736(12)61480-9

De Ligt et al. (2012) N Engl J Med 367:1921-1929. Supplementary table 3 doi: 10.1056/NEJMoa1206524

Gilissen et al. (2014) Nature 511:344-347. Supplementary table 8 doi: 10.1038/nature13394

American Journal of Human Genetics (2014) 95:360-370. Supplementary table 1 doi: 10.1016/j.ajhg.2014.08.013

Sanders et al. (2012) Nature 485:237-241. Supplementary table 2 doi: 10.1038/nature10945

O'Roak et al. (2012) Nature 485:246-250. Supplementary table 3 doi: 10.1038/nature10989

Iossifov et al. (2012) Neuron 74:285-299. Supplementary tables 1 and 2 doi: 10.1016/j.neuron.2012.04.009

Iossifov et al. (2014) Nature 498:216-221. Supplementary table 2 doi: 10.1038/nature13908

De Rubeis et al. (2013) Nature 515:209-215. Supplementary table 3 doi: 10.1038/nature13772

Fromer et al. (2014) Nature 506:179-184. Supplementary table 1 doi: 10.1038/nature12929

Zaidi et al. (2013) Nature 498:220-223. Supplementary table 4 doi: 10.1038/nature12141

Lelieveld et al. (2016) Nature Neuroscience 19:1194-1196. Supplementary table 2 doi: 10.1038/nature12141

Source

url(http://www.sciencedirect.com/science/MiamiMultiMediaURL/1-s2.0-S0140673612614809/1-s2.0-S0140673612614809-mmc1.pdf/271074/FULL/S0140673612614809/55b26043f4a279334b3a5ec00b9faf4b/mmc1.pdf)

url(http://www.nejm.org/doi/suppl/10.1056/NEJMoa1206524/suppl_file/nejmoa126524_appendix.pdf)

url(http://www.nature.com/nature/journal/v511/n7509/extref/nature13394-s1.pdf)

url(http://www.sciencedirect.com/science/MiamiMultiMediaURL/1-s2.0-S0002929714003838/1-s2.0-S0002929714003838-mmc2.xlsx/276895/FULL/S0002929714003838/bf21945d72e3297fc44969dc0296f4f1/mmc2.xlsx)

url(http://www.nature.com/nature/journal/v485/n7397/extref/nature10945-s3.xls)

url(http://www.nature.com/nature/journal/v485/n7397/extref/nature10989-s2.xls)

url(http://www.sciencedirect.com/science/MiamiMultiMediaURL/1-s2.0-S0896627312003406/1-s2.0-S0896627312003406-mmc2.xlsx/272195/FULL/S0896627312003406/26c5ba3b72a2410ef43fec52a40f35e6/mmc2.xlsx)

url(http://www.sciencedirect.com/science/MiamiMultiMediaURL/1-s2.0-S0896627312003406/1-s2.0-S0896627312003406-mmc4.xlsx/272195/FULL/S0896627312003406/6caa42b35609c2ed5910b5381ddd5335/mmc4.xlsx)

url(http://www.nature.com/nature/journal/v515/n7526/extref/nature13908-s2.zip)

url(http://www.nature.com/nature/journal/v515/n7526/extref/nature13772-s4.xlsx)

url(http://www.nature.com/nature/journal/v506/n7487/extref/nature12929-s2.xlsx)

url(http://www.nature.com/nature/journal/v498/n7453/extref/nature12141-s1.pdf)

url(http://www.nature.com/neuro/journal/v19/n9/extref/nn.4352-S3.xlsx)

jeremymcrae/publishedDeNovos documentation built on May 19, 2019, 5:08 a.m.