Evaluation of next generation sequencing platforms for population targeted sequencing studies (2009)
Harismendy, Olivier, Ng, Pauline C, Strausberg, Robert L, Wang, Xiaoyun, Stockwell, Timothy B, Beeson, Karen Y, ...
Abstract Background Next generation sequencing (NGS) platforms are currently being utilized for targeted sequencing of candidate genes or genomic intervals to perform sequence-based association...
The HuRef Browser: a web resource for individual human genomics (2009)
Axelrod, Nelson, Lin, Yuan, Ng, Pauline C., Stockwell, Timothy B., Crabtree, Jonathan, Huang, Jiaqi, ...
The HuRef Genome Browser is a web application for the navigation and analysis of the previously published genome of a human individual, termed HuRef. The browser provides a comparative view between...
The diploid genome sequence of an individual human (2008)
Samuel Levy, Granger Sutton, Pauline C. Ng, Lars Feuk, Aaron L. Halpern, Brian P. Walenz, ...
Presented here is a genome sequence of an individual human. It was produced from;32 million random DNA fragments, sequenced by Sanger dideoxy technology and assembled into 4,528 scaffolds, comprising...
The diploid genome sequence of an individual human (2008)
Samuel Levy, Granger Sutton, Pauline C. Ng, Lars Feuk, Aaron L. Halpern, Brian P. Walenz, ...
Presented here is a genome sequence of an individual human. It was produced from;32 million random DNA fragments, sequenced by Sanger dideoxy technology and assembled into 4,528 scaffolds, comprising...
The Diploid Genome Sequence of an Individual Human (2007)
Samuel Levy, Granger Sutton, Pauline C. Ng, Lars Feuk, Aaron L. Halpern, Brian P. Walenz, ...
Presented here is a genome sequence of an individual human. It was produced from ∼32 million random DNA fragments, sequenced by Sanger dideoxy technology and assembled into 4,528 scaffolds,...
Power to Detect Risk Alleles Using Genome-Wide Tag SNP Panels (2007)
Michael A. Eberle, Pauline C. Ng, Kenneth Kuhn, Lixin Zhou, Daniel A. Peiffer, Luana Galver, ...
Advances in high-throughput genotyping and the International HapMap Project have enabled association studies at the whole-genome level. We have constructed whole-genome genotyping panels of over...
SIFT: predicting amino acid changes that affect protein function (2003)
Ng, Pauline C., Henikoff, Steven
Single nucleotide polymorphism (SNP) studies and random mutagenesis projects identify amino acid substitutions in protein-coding regions. Each substitution has the potential to affect protein...
PHAT: a transmembrane-specific substitution matrix (2000)
Ng, Pauline C., Henikoff, Jorja G., Henikoff, Steven
Motivation: Database searching algorithms for proteins use scoring matrices based on average protein properties, and thus are dominated by globular proteins. However, since transmembrane regions of a...
SIFT: predicting amino acid changes that affect protein function
Ng, Pauline C., Henikoff, Steven
Single nucleotide polymorphism (SNP) studies and random mutagenesis projects identify amino acid substitutions in protein-coding regions. Each substitution has the potential to affect protein...
Predicting Deleterious Amino Acid Substitutions
Ng, Pauline C., Henikoff, Steven
Many missense substitutions are identified in single nucleotide polymorphism (SNP) data and large-scale random mutagenesis projects. Each amino acid substitution potentially affects protein function....
Accounting for Human Polymorphisms Predicted to Affect Protein Function
Ng, Pauline C., Henikoff, Steven
A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide polymorphism (nsSNP) in a gene affects its protein product and, consequently, impacts the carrier's...
Accounting for Human Polymorphisms Predicted to Affect Protein Function
Ng, Pauline C., Henikoff, Steven
A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide polymorphism (nsSNP) in a gene affects its protein product and, consequently, impacts the carrier's...
SIFT: predicting amino acid changes that affect protein function
Ng, Pauline C., Henikoff, Steven
Single nucleotide polymorphism (SNP) studies and random mutagenesis projects identify amino acid substitutions in protein-coding regions. Each substitution has the potential to affect protein...
Predicting Deleterious Amino Acid Substitutions
Ng, Pauline C., Henikoff, Steven
Many missense substitutions are identified in single nucleotide polymorphism (SNP) data and large-scale random mutagenesis projects. Each amino acid substitution potentially affects protein function....
The Diploid Genome Sequence of an Individual Human
Levy, Samuel, Sutton, Granger, Ng, Pauline C, Feuk, Lars, Halpern, Aaron L, Walenz, Brian P, ...
Presented here is a genome sequence of an individual human. It was produced from ∼32 million random DNA fragments, sequenced by Sanger dideoxy technology and assembled into 4,528 scaffolds,...
Power to Detect Risk Alleles Using Genome-Wide Tag SNP Panels
Eberle, Michael A, Ng, Pauline C, Kuhn, Kenneth, Zhou, Lixin, Peiffer, Daniel A, Galver, Luana, ...
Advances in high-throughput genotyping and the International HapMap Project have enabled association studies at the whole-genome level. We have constructed whole-genome genotyping panels of over...
Genetic Variation in an Individual Human Exome
Ng, Pauline C., Levy, Samuel, Huang, Jiaqi, Stockwell, Timothy B., Walenz, Brian P., Li, Kelvin, ...
There is much interest in characterizing the variation in a human individual, because this may elucidate what contributes significantly to a person's phenotype, thereby enabling personalized...
The HuRef Browser: a web resource for individual human genomics
Axelrod, Nelson, Lin, Yuan, Ng, Pauline C., Stockwell, Timothy B., Crabtree, Jonathan, Huang, Jiaqi, ...
The HuRef Genome Browser is a web application for the navigation and analysis of the previously published genome of a human individual, termed HuRef. The browser provides a comparative view between...
Evaluation of next generation sequencing platforms for population targeted sequencing studies
Harismendy, Olivier, Ng, Pauline C, Strausberg, Robert L, Wang, Xiaoyun, Stockwell, Timothy B, Beeson, Karen Y, ...
Human sequence generated from three next-generation sequencing platforms reveals systematic variability in sequence coverage due to local sequence characteristics.