New insights into the generation and role of de novo mutations in health and disease
New insights into the generation and role of de novo mutations in health and disease
About this item
Full title
Author / Creator
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Aside from inheriting half of the genome of each of our parents, we are born with a small number of novel mutations that occurred during gametogenesis and postzygotically. Recent genome and exome sequencing studies of parent-offspring trios have provided the first insights into the number and distribution of these de novo mutations in health and di...
Alternative Titles
Full title
New insights into the generation and role of de novo mutations in health and disease
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5125044
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5125044
Other Identifiers
ISSN
1474-760X,1474-7596
E-ISSN
1474-760X
DOI
10.1186/s13059-016-1110-1
