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Before progressing from "exomes" to "genomes"… don't forget splicing variants.

作者信息

Shaikh Samiha S, Nahorski Michael S, Rai Harjeet, Woods C Geoffrey

机构信息

Department of Medical Genetics, Cambridge Institute for Medical Research, Hills Road, Cambridge, CB2 0XY, United Kingdom.

East Anglian Medical Genetics Service, Genetics Laboratories, Addenbrooke's Treatment Centre, Cambridge University Hospitals, Hills Road, Cambridge, CB2 0QQ, United Kingdom.

出版信息

Eur J Hum Genet. 2018 Nov;26(11):1559-1562. doi: 10.1038/s41431-018-0214-3. Epub 2018 Jul 12.

DOI:10.1038/s41431-018-0214-3
PMID:30002500
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6189206/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5cc/6189206/ea2f7e78325c/41431_2018_214_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5cc/6189206/ea2f7e78325c/41431_2018_214_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5cc/6189206/ea2f7e78325c/41431_2018_214_Fig1_HTML.jpg

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