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。Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82
Tom Walsh et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
Jun Ling Wang et al.
BRAIN (2010)
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing
Jamie K. Teer et al.
GENOME RESEARCH (2010)
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Kaya Bilguvar et al.
NATURE (2010)
Exome sequencing identifies the cause of a mendelian disorder
Sarah B. Ng et al.
NATURE GENETICS (2010)
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
Tobias B. Haack et al.
NATURE GENETICS (2010)
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Sarah B. Ng et al.
NATURE GENETICS (2010)
Target-enrichment strategies for next-generation sequencing
Lira Mamanova et al.
NATURE METHODS (2010)
Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia
Kiran Musunuru et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Radoje Drmanac et al.
SCIENCE (2010)
Whole exome capture in solution with 3 Gbp of data
Matthew N. Bainbridge et al.
GENOME BIOLOGY (2010)
Methods for Genomic Partitioning
Emily H. Turner et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2009)
SOAP2: an improved ultrafast tool for short read alignment
Ruiqiang Li et al.
BIOINFORMATICS (2009)
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
Kevin Judd McKernan et al.
GENOME RESEARCH (2009)
SNP detection for massively parallel whole-genome resequencing
Ruiqiang Li et al.
GENOME RESEARCH (2009)
Finding the missing heritability of complex diseases
Teri A. Manolio et al.
NATURE (2009)
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B. Ng et al.
NATURE (2009)
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
Andreas Gnirke et al.
NATURE BIOTECHNOLOGY (2009)
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Murim Choi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
The diploid genome sequence of an Asian individual
Jun Wang et al.
NATURE (2008)
Accurate whole human genome sequencing using reversible terminator chemistry
David R. Bentley et al.
NATURE (2008)
A large genome center's improvements to the Illumina sequencing system
Michael A. Quail et al.
NATURE METHODS (2008)
Genetic Mapping in Human Disease
David Altshuler et al.
SCIENCE (2008)
Genome-wide in situ exon capture for selective resequencing
Emily Hodges et al.
NATURE GENETICS (2007)
Opinion - Mendelian disorders deserve more attention
SE Antonarakis et al.
NATURE REVIEWS GENETICS (2006)
Initial sequencing and analysis of the human genome
ES Lander et al.
NATURE (2001)
分享论文
