| P50 | author | Kelly A. Frazer | Q72345870 |
| | Sigrid Kufaas Brækkan | Q113455627 |
| P2093 | author name string | Kristen Jepsen | |
| | Andrew R Carson | |
| | John-Bjarne Hansen | |
| | Erin N Smith | |
| | Hiroko Matsui | |
| P2860 | cites work | A flexible and accurate genotype imputation method for the next generation of genome-wide association studies | Q21129496 |
| | Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement | Q21183963 |
| | An integrated encyclopedia of DNA elements in the human genome | Q22122150 |
| | Unlocking Mendelian disease using exome sequencing | Q37932636 |
| | An evaluation of statistical approaches to rare variant analysis in genetic association studies | Q39941009 |
| | Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. | Q41822367 |
| | Extremely low-coverage sequencing and imputation increases power for genome-wide association studies | Q41882858 |
| | Quantifying the percent increase in minimum sample size for SNP genotyping errors in genetic model-based association studies | Q47386037 |
| | What SNP genotyping errors are most costly for genetic association studies? | Q52004489 |
| | The allelic architecture of human disease genes: common disease-common variant... or not? | Q22337148 |
| | Are rare variants responsible for susceptibility to complex diseases? | Q22337172 |
| | Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations | Q24296941 |
| | Exome sequencing identifies the cause of a mendelian disorder | Q24607742 |
| | Genomewide comparison of DNA sequences between humans and chimpanzees | Q24613272 |
| | Targeted capture and massively parallel sequencing of 12 human exomes | Q24615381 |
| | Comprehensive molecular portraits of human breast tumours | Q24630844 |
| | A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals | Q24644474 |
| | Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 |
| | Integrated genomic analyses of ovarian carcinoma | Q27860518 |
| | The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data | Q27860742 |
| | A framework for variation discovery and genotyping using next-generation DNA sequencing data | Q29547262 |
| | The variant call format and VCFtools | Q29614172 |
| | Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1 | Q29614651 |
| | Exome sequencing as a tool for Mendelian disease gene discovery | Q29615382 |
| | Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project. | Q30419441 |
| | Variant callers for next-generation sequencing data: a comparison study | Q30671047 |
| | Statistical issues in the analysis of Illumina data | Q31145644 |
| | Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data | Q33359015 |
| | Challenges of sequencing human genomes | Q33592630 |
| | Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population | Q33679056 |
| | Genotype and SNP calling from next-generation sequencing data | Q33903792 |
| | De novo mutations in human genetic disease | Q34288731 |
| | Assessment of genotype imputation performance using 1000 Genomes in African American studies | Q34505607 |
| | Assessing the impact of differential genotyping errors on rare variant tests of association | Q34614279 |
| | Assessing the impact of non-differential genotyping errors on rare variant tests of association | Q35546078 |
| | Most rare missense alleles are deleterious in humans: implications for complex disease and association studies | Q35752568 |
| | Cohort profile: the Tromso Study | Q36195869 |
| | Exome sequencing and the genetic basis of complex traits | Q37056084 |
| | Power of deep, all-exon resequencing for discovery of human trait genes | Q37129418 |
| | Whole-exome sequencing and imaging genetics identify functional variants for rate of change in hippocampal volume in mild cognitive impairment | Q37183109 |
| | Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration | Q37237896 |
| | Identifying rare variants associated with complex traits via sequencing | Q37316697 |
| | The relationship between imputation error and statistical power in genetic association studies in diverse populations | Q37417890 |
| | Base-calling for next-generation sequencing platforms | Q37829810 |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | data quality | Q1757694 |
| P304 | page(s) | 125 | |
| P577 | publication date | 2014-05-02 | |
| P1433 | published in | BMC Bioinformatics | Q4835939 |
| P1476 | title | Effective filtering strategies to improve data quality from population-based whole exome sequencing studies | |
| P478 | volume | 15 | |