| review article | Q7318358 |
| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1043091107 |
| P356 | DOI | 10.1007/S00439-016-1658-6 |
| P3181 | OpenCitations bibliographic resource ID | 2334933 |
| P932 | PMC publication ID | 4883269 |
| P698 | PubMed publication ID | 27075447 |
| P50 | author | Joris A Veltman | Q57687954 |
| Christian Gilissen | Q39793064 | ||
| P2093 | author name string | Stefan H Lelieveld | |
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| Genomics and privacy: implications of the new reality of closed data for the field | Q28254700 | ||
| Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation | Q28263098 | ||
| Patterns and rates of exonic de novo mutations in autism spectrum disorders | Q28264242 | ||
| Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration | Q28264933 | ||
| Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features | Q28270890 | ||
| SCALCE: boosting sequence compression algorithms using locally consistent encoding | Q28276638 | ||
| Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders | Q28279421 | ||
| QualComp: a new lossy compressor for quality scores based on rate distortion theory | Q28292563 | ||
| Somatic mutation, genomic variation, and neurological disease | Q28395313 | ||
| GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge | Q28607476 | ||
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| Guidelines for investigating causality of sequence variants in human disease | Q28655218 | ||
| The 1000 Genomes Project: data management and community access | Q28730196 | ||
| Compressing genomic sequence fragments using SlimGene | Q28743236 | ||
| The International Nucleotide Sequence Database Collaboration | Q28743761 | ||
| Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies | Q28752220 | ||
| A framework for the interpretation of de novo mutation in human disease | Q29031873 | ||
| Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm | Q29547194 | ||
| A framework for variation discovery and genotyping using next-generation DNA sequencing data | Q29547262 | ||
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| A general framework for estimating the relative pathogenicity of human genetic variants | Q29615730 | ||
| A systematic survey of loss-of-function variants in human protein-coding genes | Q29615756 | ||
| Evolution and functional impact of rare coding variation from deep sequencing of human exomes | Q29617587 | ||
| Detection of nonneutral substitution rates on mammalian phylogenies | Q30080028 | ||
| Copy number variation detection and genotyping from exome sequence data | Q30422583 | ||
| Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts | Q30488169 | ||
| PhenoMiner: from text to a database of phenotypes associated with OMIM diseases | Q30488475 | ||
| Finding the lost treasures in exome sequencing data | Q30663128 | ||
| Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder | Q30671413 | ||
| Compression of structured high-throughput sequencing data | Q30698740 | ||
| Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls | Q30758000 | ||
| Data analysis: Create a cloud commons | Q30979327 | ||
| Qualimap 2: advanced multi-sample quality control for high-throughput sequencing data | Q31000432 | ||
| Efficient genotype compression and analysis of large genetic-variation data sets. | Q31019979 | ||
| Genic intolerance to functional variation and the interpretation of personal genomes | Q31129974 | ||
| Cloud computing and the DNA data race | Q33630356 | ||
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| ACMG clinical laboratory standards for next-generation sequencing | Q33903280 | ||
| CloudAligner: A fast and full-featured MapReduce based tool for sequence mapping | Q33924585 | ||
| dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations | Q33945578 | ||
| RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research | Q34011881 | ||
| Biomedical cloud computing with Amazon Web Services | Q34013580 | ||
| Copy number variation in human health, disease, and evolution | Q34019142 | ||
| Saturation editing of genomic regions by multiplex homology-directed repair | Q34143368 | ||
| Loss-of-function variants in the genomes of healthy humans | Q34192902 | ||
| The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping | Q34297070 | ||
| Cloud-based bioinformatics workflow platform for large-scale next-generation sequencing analyses | Q34372209 | ||
| A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans | Q34374659 | ||
| Jannovar: a java library for exome annotation | Q34412573 | ||
| Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 | ||
| Genome sequencing identifies major causes of severe intellectual disability | Q34422838 | ||
| A method for calculating probabilities of fitness consequences for point mutations across the human genome | Q34458674 | ||
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| The UK10K project identifies rare variants in health and disease | Q34494047 | ||
| A survey of tools for variant analysis of next-generation genome sequencing data | Q34557864 | ||
| CoNVEX: copy number variation estimation in exome sequencing data using HMM | Q34569598 | ||
| Interpretation of genomic variants using a unified biological network approach | Q34625256 | ||
| In silico prediction of splice-altering single nucleotide variants in the human genome | Q34711972 | ||
| NCBI's Database of Genotypes and Phenotypes: dbGaP. | Q35057773 | ||
| DANN: a deep learning approach for annotating the pathogenicity of genetic variants | Q35123300 | ||
| The Scramble conversion tool | Q35188396 | ||
| Bioinformatics on the cloud computing platform Azure. | Q35210958 | ||
| CODEX: a normalization and copy number variation detection method for whole exome sequencing | Q35237008 | ||
| Big Data: Astronomical or Genomical? | Q35685054 | ||
| New insights into the performance of human whole-exome capture platforms. | Q35770586 | ||
| A method to predict the impact of regulatory variants from DNA sequence | Q35904489 | ||
| The missing indels: an estimate of indel variation in a human genome and analysis of factors that impede detection | Q36002435 | ||
| Comparison of predicted and actual consequences of missense mutations | Q36079003 | ||
| Genomic cloud computing: legal and ethical points to consider | Q36116641 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | bioinformatics | Q128570 |
| computational biology | Q177005 | ||
| human genome | Q720988 | ||
| biomedical investigative technique | Q66648976 | ||
| P304 | page(s) | 603-14 | |
| P577 | publication date | 2016-06-01 | |
| P1433 | published in | Human Genetics | Q5937167 |
| P1476 | title | Novel bioinformatic developments for exome sequencing | |
| P478 | volume | 135 |
| Q55279893 | A machine learning model to determine the accuracy of variant calls in capture-based next generation sequencing. |
| Q98157775 | A survey of RNA viruses in mosquitoes from Mozambique reveals novel genetic lineages of flaviviruses and phenuiviruses, as well as frequent flavivirus-like viral DNA forms in Mansonia |
| Q38811519 | Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN. |
| Q30235891 | Big Data Analytics for Genomic Medicine |
| Q92703295 | Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics |
| Q47366285 | Current developments in the genetics of Rett and Rett-like syndrome |
| Q92597320 | Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges |
| Q94501953 | Insights into the inhibitory potential of selective phytochemicals against Mpro of 2019-nCoV: a computer-aided study |
| Q95323301 | Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis |
| Q28066709 | Integrating next-generation sequencing into clinical oncology: strategies, promises and pitfalls |
| Q38656663 | Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. |
| Q52312226 | MECP2 variation in Rett syndrome - an overview of current coverage of genetic and phenotype data within existing databases |
| Q40638979 | OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis. |
| Q64913621 | Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data. |
| Q53688374 | Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana. |
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