User profiles for G. T. Marth
Gabor T MarthProfessor of Human Genetics, University of Utah Verified email at genetics.utah.edu Cited by 126967 |
The variant call format and VCFtools
… For example, the FORMAT field GT:GQ:DP in the fourth data entry of Figure 1a indicates
that the subsequent entries contain information regarding the genotype, genotype quality and …
that the subsequent entries contain information regarding the genotype, genotype quality and …
ART: a next-generation sequencing read simulator
ART is a set of simulation tools that generate synthetic next-generation sequencing reads.
This functionality is essential for testing and benchmarking tools for next-generation …
This functionality is essential for testing and benchmarking tools for next-generation …
Mapping copy number variation by population-scale genome sequencing
Genomic structural variants (SVs) are abundant in humans, differing from other forms of
variation in extent, origin and functional impact. Despite progress in SV characterization, the …
variation in extent, origin and functional impact. Despite progress in SV characterization, the …
BamTools: a C++ API and toolkit for analyzing and managing BAM files
Motivation: Analysis of genomic sequencing data requires efficient, easy-to-use access to
alignment results and flexible data management tools (eg filtering, merging, sorting, etc.). …
alignment results and flexible data management tools (eg filtering, merging, sorting, etc.). …
[HTML][HTML] Multi-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a suite …
data limits studies of human genetic diversity and disease association. Here, we apply a suite …
A general approach to single-nucleotide polymorphism discovery
GT Marth, I Korf, MD Yandell, RT Yeh, Z Gu, H Zakeri… - Nature …, 1999 - nature.com
Single-nucleotide polymorphisms (SNPs) are the most abundant form of human genetic
variation and a resource for mapping complex genetic traits 1. The large volume of data …
variation and a resource for mapping complex genetic traits 1. The large volume of data …
Demographic history and rare allele sharing among human populations
…, RN Gutenkunst, AR Indap, GT Marth… - Proceedings of the …, 2011 - National Acad Sciences
High-throughput sequencing technology enables population-level surveys of human genomic
variation. Here, we examine the joint allele frequency distributions across continental …
variation. Here, we examine the joint allele frequency distributions across continental …
Whole-genome sequencing and variant discovery in C. elegans
LDW Hillier, GT Marth, AR Quinlan, D Dooling… - Nature …, 2008 - nature.com
Massively parallel sequencing instruments enable rapid and inexpensive DNA sequence
data production. Because these instruments are new, their data require characterization with …
data production. Because these instruments are new, their data require characterization with …
SpeedSeq: ultra-fast personal genome analysis and interpretation
SpeedSeq is an open-source genome analysis platform that accomplishes alignment, variant
detection and functional annotation of a 50× human genome in 13 h on a low-cost server …
detection and functional annotation of a 50× human genome in 13 h on a low-cost server …
The allele frequency spectrum in genome-wide human variation data reveals signals of differential demographic history in three large world populations
We have studied a genome-wide set of single-nucleotide polymorphism (SNP) allele frequency
measures for African-American, East Asian, and European-American samples. For this …
measures for African-American, East Asian, and European-American samples. For this …