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Extensive sequencing of seven human genomes to characterize benchmark reference materials

https://doi.org/10.1038/sdata.2016.25

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Certification of NIST Standard Reference Material 1575a pine needles and results of an international laboratory comparison

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inferred← citeshttps://doi.org/10.1038/s41586-023-05896-xopenalex-snapshot

A draft human pangenome reference

inferred← citeshttps://doi.org/10.1038/s41586-023-06425-6openalex-snapshot

Assembly of 43 human Y chromosomes reveals extensive complexity and variation

inferred← citeshttps://doi.org/10.1038/s41586-023-06457-yopenalex-snapshot

The complete sequence of a human Y chromosome

inferred← citeshttps://doi.org/10.1038/s41586-025-08922-2openalex-snapshot

Human de novo mutation rates from a four-generation pedigree reference

inferred← citeshttps://doi.org/10.1038/s41586-025-09140-6openalex-snapshot

Complex genetic variation in nearly complete human genomes

inferred← citeshttps://doi.org/10.1038/s41587-019-0054-xopenalex-snapshot

Best practices for benchmarking germline small-variant calls in human genomes

inferred← citeshttps://doi.org/10.1038/s41587-019-0074-6openalex-snapshot

An open resource for accurately benchmarking small variant and reference calls

inferred← citeshttps://doi.org/10.1038/s41587-019-0217-9openalex-snapshot

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

inferred← citeshttps://doi.org/10.1038/s41587-019-0368-8openalex-snapshot

Accurate detection of mosaic variants in sequencing data without matched controls

inferred← citeshttps://doi.org/10.1038/s41587-020-0407-5openalex-snapshot

Targeted nanopore sequencing with Cas9-guided adapter ligation

inferred← citeshttps://doi.org/10.1038/s41587-020-0503-6openalex-snapshot

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

inferred← citeshttps://doi.org/10.1038/s41587-020-0538-8openalex-snapshot

A robust benchmark for detection of germline large deletions and insertions

inferred← citeshttps://doi.org/10.1038/s41587-021-00993-6openalex-snapshot

Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

inferred← citeshttps://doi.org/10.1038/s41587-021-00994-5openalex-snapshot

Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing

inferred← citeshttps://doi.org/10.1038/s41587-021-01049-5openalex-snapshot

Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study

inferred← citeshttps://doi.org/10.1038/s41587-021-01158-1openalex-snapshot

Curated variation benchmarks for challenging medically relevant autosomal genes

inferred← citeshttps://doi.org/10.1038/s41587-022-01435-7openalex-snapshot

DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer

inferred← citeshttps://doi.org/10.1038/s41587-023-01662-6openalex-snapshot

Telomere-to-telomere assembly of diploid chromosomes with Verkko

inferred← citeshttps://doi.org/10.1038/s41587-023-01793-wopenalex-snapshot

Pangenome graph construction from genome alignments with Minigraph-Cactus

inferred← citeshttps://doi.org/10.1038/s41587-023-02024-yopenalex-snapshot

Detection of mosaic and population-level structural variants with Sniffles2

inferred← citeshttps://doi.org/10.1038/s41587-024-02238-8openalex-snapshot

Linking CRISPR–Cas9 double-strand break profiles to gene editing precision with BreakTag

inferred← citeshttps://doi.org/10.1038/s41588-018-0145-5openalex-snapshot

Accurate genotyping across variant classes and lengths using variant graphs

inferred← citeshttps://doi.org/10.1038/s41588-018-0273-yopenalex-snapshot

Assembly of a pan-genome from deep sequencing of 910 humans of African descent

inferred← citeshttps://doi.org/10.1038/s41588-018-0316-4openalex-snapshot

Fast and accurate genomic analyses using genome graphs

inferred← citeshttps://doi.org/10.1038/s41588-022-01043-wopenalex-snapshot

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

inferred← citeshttps://doi.org/10.1038/s41588-024-01748-0openalex-snapshot

Direct transposition of native DNA for sensitive multimodal single-molecule sequencing

inferred← citeshttps://doi.org/10.1038/s41591-022-01767-6openalex-snapshot

Development of a clinical polygenic risk score assay and reporting workflow

inferred← citeshttps://doi.org/10.1038/s41591-022-01883-3openalex-snapshot

Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects

inferred← citeshttps://doi.org/10.1038/s41592-018-0001-7openalex-snapshot

Accurate detection of complex structural variations using single-molecule sequencing

inferred← citeshttps://doi.org/10.1038/s41592-020-01000-7openalex-snapshot

Simultaneous profiling of chromatin accessibility and methylation on human cell lines with nanopore sequencing

inferred← citeshttps://doi.org/10.1038/s41592-021-01299-wopenalex-snapshot

Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads

inferred← citeshttps://doi.org/10.1038/s41592-022-01445-yopenalex-snapshot

Merfin: improved variant filtering, assembly evaluation and polishing via k-mer validation

inferred← citeshttps://doi.org/10.1038/s41592-025-02750-yopenalex-snapshot

The Platinum Pedigree: a long-read benchmark for genetic variants

inferred← citeshttps://doi.org/10.1038/s41596-019-0175-1openalex-snapshot

Use of synthetic DNA spike-in controls (sequins) for human genome sequencing

inferred← citeshttps://doi.org/10.1038/s41596-025-01149-5openalex-snapshot

A detailed guide to assessing genome assembly based on long-read sequencing data using Inspector

inferred← citeshttps://doi.org/10.1038/s41597-019-0098-2openalex-snapshot

High-coverage, long-read sequencing of Han Chinese trio reference samples

inferred← citeshttps://doi.org/10.1038/s41597-024-03416-8openalex-snapshot

Publication, funding, and experimental data in support of Human Reference Atlas construction and usage

inferred← citeshttps://doi.org/10.1038/s41597-025-05438-2openalex-snapshot

Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

inferred← citeshttps://doi.org/10.1038/s41598-018-34774-0openalex-snapshot

Ongoing human chromosome end extension revealed by analysis of BioNano and nanopore data

inferred← citeshttps://doi.org/10.1038/s41598-019-41601-7openalex-snapshot

Characteristics and homogeneity of N6-methylation in human genomes

inferred← citeshttps://doi.org/10.1038/s41598-019-52000-3openalex-snapshot

Development and validation of a targeted gene sequencing panel for application to disparate cancers

inferred← citeshttps://doi.org/10.1038/s41598-019-54446-xopenalex-snapshot

High throughput barcoding method for genome-scale phasing

inferred← citeshttps://doi.org/10.1038/s41598-020-59026-yopenalex-snapshot

Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage

inferred← citeshttps://doi.org/10.1038/s41598-020-60215-yopenalex-snapshot

Comparison of Mendeliome exome capture kits for use in clinical diagnostics

inferred← citeshttps://doi.org/10.1038/s41598-020-79794-xopenalex-snapshot

Human whole genome sequencing in South Africa

inferred← citeshttps://doi.org/10.1038/s41598-024-52386-9openalex-snapshot

Illumina reads correction: evaluation and improvements

inferred← citeshttps://doi.org/10.1038/s41598-024-58733-0openalex-snapshot

Targeted phasing of 2–200 kilobase DNA fragments with a short-read sequencer and a single-tube linked-read library method

inferred← citeshttps://doi.org/10.1038/s41598-024-66021-0openalex-snapshot

Investigating copy number variants in schizophrenia pedigrees using a new consensus pipeline called PECAN

inferred← citeshttps://doi.org/10.1038/s41598-025-97047-7openalex-snapshot

Benchmarking of variant calling software for whole-exome sequencing using gold standard datasets

inferred← citeshttps://doi.org/10.1038/s41598-026-67762-wopenalex-snapshot

T-rex: standardized analysis of germline variants in whole-exome sequencing trios

inferred← citeshttps://doi.org/10.1038/s42003-019-0559-3openalex-snapshot

High-efficiency genomic editing in Epstein-Barr virus-transformed lymphoblastoid B cells using a single-stranded donor oligonucleotide strategy

inferred← citeshttps://doi.org/10.1038/s42003-021-02556-6openalex-snapshot

Building a Chinese pan-genome of 486 individuals

inferred← citeshttps://doi.org/10.1038/s42003-021-02777-9openalex-snapshot

A population-specific reference panel for improved genotype imputation in African Americans

inferred← citeshttps://doi.org/10.1038/s42003-023-04477-yopenalex-snapshot

Accuracy of haplotype estimation and whole genome imputation affects complex trait analyses in complex biobanks

inferred← citeshttps://doi.org/10.1038/s42003-025-08837-8openalex-snapshot

Genotyping short tandem repeats across copy number alterations, aneuploidies, and polyploid organisms

inferred← citeshttps://doi.org/10.1038/s42256-020-0167-4openalex-snapshot

Exploring the limit of using a deep neural network on pileup data for germline variant calling

inferred← citeshttps://doi.org/10.1038/s43856-025-00934-3openalex-snapshot

Clinical and analytical validation of a combined RNA and DNA exome assay across a large tumor cohort

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