Thousands of missing variants in the UK Biobank are recoverable by genome realignment
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[1] Caroline F Wright,et al. Assessing the analytical validity of SNP-chips for detecting very rare pathogenic variants: implications for direct-to-consumer genetic testing , 2019, bioRxiv.
[2] Gonçalo Abecasis,et al. Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank , 2019, bioRxiv.
[3] Marc S. Williams,et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.
[4] Aaron R. Quinlan,et al. BIOINFORMATICS APPLICATIONS NOTE , 2022 .
[5] Gonçalo R. Abecasis,et al. The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..
[6] Stephan J Sanders,et al. A framework for the interpretation of de novo mutation in human disease , 2014, Nature Genetics.
[7] Alexander E. Lopez,et al. A Protein‐Truncating HSD17B13 Variant and Protection from Chronic Liver Disease , 2018, The New England journal of medicine.
[8] Daniel R. Zerbino,et al. Ensembl 2016 , 2015, Nucleic Acids Res..
[9] P. Donnelly,et al. The UK Biobank resource with deep phenotyping and genomic data , 2018, Nature.
[10] Terrence S. Furey,et al. The UCSC Genome Browser Database: update 2006 , 2005, Nucleic Acids Res..
[11] P Green,et al. Base-calling of automated sequencer traces using phred. II. Error probabilities. , 1998, Genome research.
[12] David Haussler,et al. The UCSC Genome Browser database: update 2010 , 2009, Nucleic Acids Res..
[13] Heng Li. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM , 2013, 1303.3997.
[14] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[15] Jacob A. Tennessen,et al. Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes , 2012, Science.
[16] Richard S. Sandstrom,et al. BEDOPS: high-performance genomic feature operations , 2012, Bioinform..
[17] Ryan L. Collins,et al. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes , 2019, bioRxiv.
[18] Caroline F. Wright,et al. Very rare pathogenic genetic variants detected by SNP-chips are usually false positives: implications for direct-to-consumer genetic testing , 2019 .
[19] Yeting Zhang,et al. Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects , 2018, Nature Communications.
[20] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.