High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA
出版年份 2016 全文链接
标题
High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA
作者
关键词
Variant genotypes, DNA extraction, Pilot studies, Alleles, DNA libraries, Genomic library screening, DNA sequencing, Genotyping
出版物
PLoS One
Volume 11, Issue 4, Pages e0153253
出版商
Public Library of Science (PLoS)
发表日期
2016-04-19
DOI
10.1371/journal.pone.0153253
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Rare-Variant Association Analysis: Study Designs and Statistical Tests
- (2014) Seunggeung Lee et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing
- (2013) Mads Vilhelm Hollegaard et al. MOLECULAR GENETICS AND METABOLISM
- Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci
- (2013) A D Børglum et al. MOLECULAR PSYCHIATRY
- Ethical Issues with Newborn Screening in the Genomics Era
- (2012) Beth A. Tarini et al. Annual Review of Genomics and Human Genetics
- Joint Analysis of SNPs and Proteins Identifies RegulatoryIL18Gene Variations Decreasing the Chance of Spastic Cerebral Palsy
- (2012) Mads Vilhelm Hollegaard et al. HUMAN MUTATION
- Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland — Experience and development of a routine program for expanded newborn screening
- (2012) Allan Meldgaard Lund et al. MOLECULAR GENETICS AND METABOLISM
- Common variant at 16p11.2 conferring risk of psychosis
- (2012) S Steinberg et al. MOLECULAR PSYCHIATRY
- New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism
- (2012) Momoko Horikoshi et al. NATURE GENETICS
- Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis
- (2012) Bjarke Feenstra et al. NATURE GENETICS
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- Performance comparison of exome DNA sequencing technologies
- (2011) Michael J Clark et al. NATURE BIOTECHNOLOGY
- A comparative analysis of exome capture
- (2011) Jennifer S Parla et al. GENOME BIOLOGY
- Comprehensive comparison of three commercial human whole-exome capture platforms
- (2011) Asan et al. GENOME BIOLOGY
- Whole exome capture in solution with 3 Gbp of data
- (2010) Matthew N Bainbridge et al. GENOME BIOLOGY
- Whole genome microarray analysis, from neonatal blood cards
- (2009) Jill Hardin et al. BMC GENETICS
- Genome-wide scans using archived neonatal dried blood spot samples
- (2009) Mads V Hollegaard et al. BMC GENOMICS
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- What would you do if you could sequence everything?
- (2008) Avak Kahvejian et al. NATURE BIOTECHNOLOGY
- Newborn screening
- (2008) Bridget Wilcken et al. PATHOLOGY
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now