Journal
GENOME BIOLOGY
Volume 12, Issue 9, Pages -Publisher
BIOMED CENTRAL LTD
DOI: 10.1186/gb-2011-12-9-r85
Keywords
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Funding
- Australian Research Council (ARC)
- NHMRC [546943]
- NIH-NIDCD [RO1 DCOO2842]
- Doris Duke Fellowship
- Victorian Government
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [T32GM007337] Funding Source: NIH RePORTER
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Many exome sequencing studies of Mendelian disorders fail to optimally exploit family information. Classical genetic linkage analysis is an effective method for eliminating a large fraction of the candidate causal variants discovered, even in small families that lack a unique linkage peak. We demonstrate that accurate genetic linkage mapping can be performed using SNP genotypes extracted from exome data, removing the need for separate array-based genotyping. We provide software to facilitate such analyses.
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