NA12878 cohort

Related entities (2)

Mentioned in (33)

Papers in which this entity is mentioned.

• Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders. (2024)
• Theory of local k-mer selection with applications to long-read alignment. (2022)
• Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data. (2022)
• Integrative reconstruction of cancer genome karyotypes using InfoGenomeR. (2021)
• Rapid genotype imputation from sequence with reference panels. (2021)
• Best practices for variant calling in clinical sequencing. (2020)
• Structural variation in the sequencing era. (2020)
• SVXplorer: Three-tier approach to identification of structural variants via sequential recombination of discordant cluster signatures. (2020)
• Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies. (2020)
• Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. (2020)
• Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype. (2019)
• The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
• A multi-task convolutional deep neural network for variant calling in single molecule sequencing. (2019)
• Variant calling on the GRCh38 assembly with the data from phase three of the 1000 Genomes Project. (2019)
• Unique, dual-indexed sequencing adapters with UMIs effectively eliminate index cross-talk and significantly improve sensitivity of massively parallel sequencing. (2018)
• Nanopore sequencing and assembly of a human genome with ultra-long reads. (2018)
• SvABA: genome-wide detection of structural variants and indels by local assembly. (2018)
• Picky comprehensively detects high-resolution structural variants in nanopore long reads. (2018)
• GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly. (2017)
• Who's Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy. (2017)
• Mapping and phasing of structural variation in patient genomes using nanopore sequencing. (2017)
• Statistical modeling for sensitive detection of low-frequency single nucleotide variants. (2016)
• GeneiASE: Detection of condition-dependent and static allele-specific expression from RNA-seq data without haplotype information. (2016)
• High-Accuracy HLA Type Inference from Whole-Genome Sequencing Data Using Population Reference Graphs. (2016)
• HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data. (2015)
• MBASED: allele-specific expression detection in cancer tissues and cell lines. (2014)
• PyClone: statistical inference of clonal population structure in cancer. (2014)
• Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. (2013)
• Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. (2013)
• Characterizing and measuring bias in sequence data. (2013)
• An integrated encyclopedia of DNA elements in the human genome. (2012)
• A framework for variation discovery and genotyping using next-generation DNA sequencing data. (2011)
• BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. (2009)

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