A SNP profiling panel for sample tracking in whole-exome sequencing studies

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

(2012) Katja Christodoulou et al.   GUT

Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease

(2012) Jane Gibson et al.   HUMAN GENETICS

High-throughput SNP-based authentication of human cell lines

(2012) Felipe Castro et al.   INTERNATIONAL JOURNAL OF CANCER

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles

(2012) Gareth Highnam et al.   NUCLEIC ACIDS RESEARCH

MixupMapper: correcting sample mix-ups in genome-wide datasets increases power to detect small genetic effects

(2011) Harm-Jan Westra et al.   BIOINFORMATICS

Tabix: fast retrieval of sequence features from generic TAB-delimited files

(2011) H. Li   BIOINFORMATICS

A new SNP assay for identification of highly degraded human DNA

(2011) A. Freire-Aradas et al.   Forensic Science International-Genetics

Current genetic methodologies in the identification of disaster victims and in forensic analysis

(2011) Ewa Ziętkiewicz et al.   JOURNAL OF APPLIED GENETICS

MEGA5: Molecular Evolutionary Genetics Analysis Using Maximum Likelihood, Evolutionary Distance, and Maximum Parsimony Methods

(2011) K. Tamura et al.   MOLECULAR BIOLOGY AND EVOLUTION

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

SNPs for a universal individual identification panel

(2009) Andrew J. Pakstis et al.   HUMAN GENETICS