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Human Mutation, ISSN 1059-7794, 2015, Volume 36, Issue 8, pp. 815 - 822
For next-generation sequencing technologies, sufficient base-pair coverage is the foremost requirement for the reliable detection of genomic variants. We... 
coverage | genome sequencing | exome sequencing | Genome sequencing | Coverage | Exome sequencing | ACCURATE | WHOLE-GENOME | VARIANTS | SNP | BIAS | GENES | GENETICS & HEREDITY | ENRICHMENT | COPY-NUMBER VARIATION | Exome | Genome, Human | High-Throughput Nucleotide Sequencing - methods | Humans | Open Reading Frames | Proteins | Genomes | Mutation | Index Medicus | Methods
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2017, Volume 101, Issue 3, pp. 478 - 484
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2017, Volume 25, Issue 3, pp. 308 - 314
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 907 - 925
Journal Article
Clinical Chemistry, ISSN 0009-9147, 2017, Volume 63, Issue 2, pp. 503 - 512
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2015, Volume 97, Issue 5, pp. 647 - 660
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2017, Volume 25, pp. 591 - 599
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2015, Volume 97, pp. 647 - 660
Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss... 
Journal Article
Journal Article
Human Genetics, ISSN 0340-6717, 2016, Volume 135, Issue 6, pp. 603 - 614
Journal Article