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Nucleic Acids Research, ISSN 0305-1048, 2014, Volume 42, Issue 12, pp. e101 - e101
To apply exome-seq-derived variants in the clinical setting, there is an urgent need to identify the best variant caller(s) from a large collection of... 
VARIANTS | ALIGNMENT | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | CALLER | FRAMEWORK | MUTATIONS | SELECTION | CANCER | DISCOVERY | Exome | Oligonucleotide Array Sequence Analysis | Pedigree | Humans | Polymorphism, Single Nucleotide | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | Methods Online
Journal Article
Current Protocols in Bioinformatics, ISSN 1934-3396, 2013, Volume 43, Issue 43, p. 11.10.1
This unit describes how to use BWA and the Genome Analysis Toolkit (GATK) to map genome sequencing data to a reference and produce high-quality variant calls... 
Exome | WGS | NGS | Genotyping | Variant detection | Genetic Variation | Haploidy | Haplotypes - genetics | Sequence Alignment | Humans | Molecular Sequence Annotation | Databases, Genetic | Polymorphism, Single Nucleotide - genetics | Software | Calibration | Genome, Human
Journal Article
Nature Methods, ISSN 1548-7091, 11/2013, Volume 10, Issue 11, pp. 1083 - 1086
Massively parallel sequencing greatly facilitates the discovery of novel disease genes causing Mendelian and oligogenic disorders. However, many mutations are... 
MUTATIONS | EXOMES | DISEASE | BIOCHEMICAL RESEARCH METHODS | Genetic Predisposition to Disease | Phenotype | Humans | Databases, Genetic | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Gene mutations | Analysis | Exome sequencing | Genotype & phenotype | Fusion | Genomics
Journal Article
Nature Biotechnology, ISSN 1087-0156, 2014, Volume 32, Issue 3, pp. 246 - 251
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 01/2017, Volume 45, Issue 1, pp. D840 - D845
Worldwide, hundreds of thousands of humans have had their genomes or exomes sequenced, and access to the resulting data sets can provide valuable information... 
FUNCTIONAL PREDICTIONS | VARIANTS | DBNSFP | BIOCHEMISTRY & MOLECULAR BIOLOGY | Exome | User-Computer Interface | Computational Biology - methods | Humans | Databases, Genetic | Software | Genome-Wide Association Study - methods | Genomics - methods | Web Browser | Database Issue
Journal Article
Genetics in Medicine, ISSN 1098-3600, 02/2017, Volume 19, Issue 2, pp. 209 - 214
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2019, Volume 380, Issue 25, pp. 2478 - 2480
As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. This study showed... 
MEDICINE, GENERAL & INTERNAL | Exome | Phenotype | Humans | Genetic Diseases, Inborn - genetics | Mutation | Genetic Diseases, Inborn - diagnosis | Genetic Testing - methods | Sequence Analysis, DNA - methods | Whole Exome Sequencing | Genetic counseling | Laboratories | Patients | Genomics
Journal Article