Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing
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- 12 January 2011
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science Translational Medicine
- Vol. 3 (65) , 65ra4
- https://doi.org/10.1126/scitranslmed.3001756
Abstract
Carrier testing for 448 severe childhood recessive diseases by next-generation sequencing has good predictive value and suggests that every individual carries about three disease mutations.Keywords
This publication has 58 references indexed in Scilit:
- Clinical assessment incorporating a personal genomePublished by Elsevier ,2010
- Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosisNature, 2010
- Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencingThe HUGO Journal, 2009
- Exome sequencing identifies the cause of a mendelian disorderNature Genetics, 2009
- Microdroplet-based PCR enrichment for large-scale targeted sequencingNature Biotechnology, 2009
- Targeted capture and massively parallel sequencing of 12 human exomesNature, 2009
- A highly annotated whole-genome sequence of a Korean individualNature, 2009
- Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencingNature Biotechnology, 2009
- The diploid genome sequence of an Asian individualNature, 2008
- The complete genome of an individual by massively parallel DNA sequencingNature, 2008