Nature Search

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

This work introduces a pedigree-derived benchmark for single-nucleotide variants, indels, structural variants and tandem repeats, offering a variant map to validate sequencing workflows or to support the development and evaluation of new variant callers.

Zev Kronenberg
Cillian Nolan
Michael A. Eberle
Research04 Aug 2025
Nature Methods

Volume: 22, P: 1669-1676
DNA antisense therapy for asthma in an animal model

Jonathan W. Nyce
W. James Metzger
Research20 Feb 1997
Nature

Volume: 385, P: 721-725
Semi-automated assembly of high-quality diploid human reference genomes

Which combination of current genome sequencing and assembly approaches results in high-quality, complete diploid genome assemblies is determined.

Erich D. Jarvis
Giulio Formenti
Karen H. Miga
ResearchOpen Access19 Oct 2022
Nature

Volume: 611, P: 519-531
Membrane protein megahertz crystallography at the European XFEL

The European X-ray free-electron laser (EuXFEL) in Hamburg is the first XFEL with a megahertz repetition rate. Here the authors present the 2.9 Å structure of the large membrane protein complex Photosystem I from T. elongatus that was determined at the EuXFEL.

Chris Gisriel
Jesse Coe
Nadia A. Zatsepin
ResearchOpen Access04 Nov 2019
Nature Communications

Volume: 10, P: 1-11
Towards complete and error-free genome assemblies of all vertebrate species

The Vertebrate Genome Project has used an optimized pipeline to generate high-quality genome assemblies for sixteen species (representing all major vertebrate classes), which have led to new biological insights.

Arang Rhie
Shane A. McCarthy
Erich D. Jarvis
ResearchOpen Access28 Apr 2021
Nature

Volume: 592, P: 737-746
Author Correction: Membrane protein megahertz crystallography at the European XFEL

Chris Gisriel
Jesse Coe
Nadia A. Zatsepin
Amendments and CorrectionsOpen Access30 Jan 2020
Nature Communications

Volume: 11, P: 1
Author Correction: A robust benchmark for detection of germline large deletions and insertions

Justin M. Zook
Nancy F. Hansen
Marc Salit
Amendments and Corrections22 Jul 2020
Nature Biotechnology

Volume: 38, P: 1357
A robust benchmark for detection of germline large deletions and insertions

Detection of structural variants in the human genome is facilitated by a benchmark set of large deletions and insertions.

Justin M. Zook
Nancy F. Hansen
Marc Salit
Research15 Jun 2020
Nature Biotechnology

Volume: 38, P: 1347-1355
Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

Tumor–normal paired DNA samples from a breast cancer cell line and a matched lymphoblastoid cell line enable calibration of clinical sequencing pipelines and benchmarking ‘tumor-only’ or ‘matched tumor–normal’ analyses.

Li Tai Fang
Bin Zhu
Yuanting Zheng
Research09 Sept 2021
Nature Biotechnology

Volume: 39, P: 1151-1160
Fast and accurate genomic analyses using genome graphs

Graph Genome Pipeline is a read-alignment and variant-calling pipeline based on graph genomes that offers improved read-mapping and variant-calling accuracy while achieving speed comparable to those of linear reference genome pipelines.

Goran Rakocevic
Vladimir Semenyuk
Deniz Kural
Research14 Jan 2019
Nature Genetics

Volume: 51, P: 354-362
Purification, characterization, and preliminary serial crystallography diffraction advances structure determination of full-length human particulate guanylyl cyclase A receptor

Shangji Zhang
Debra T. Hansen
Petra Fromme
ResearchOpen Access12 Jul 2022
Scientific Reports

Volume: 12, P: 1-18
Serial time-resolved crystallography of photosystem II using a femtosecond X-ray laser

Femtosecond X-ray pulses were used to obtain diffraction data on photosystem II, revealing conformational changes as the complex transitions from the dark S₁ state to the double-pumped S₃ state; the time-resolved serial femtosecond crystallography technique enables structural determination of protein conformations that are highly prone to traditional radiation damage.

Christopher Kupitz
Shibom Basu
Petra Fromme
Research09 Jul 2014
Nature

Volume: 513, P: 261-265
The room temperature crystal structure of a bacterial phytochrome determined by serial femtosecond crystallography

Petra Edlund
Heikki Takala
Sebastian Westenhoff
ResearchOpen Access19 Oct 2016
Scientific Reports

Volume: 6, P: 1-9
Use of synthetic DNA spike-in controls (sequins) for human genome sequencing

Here, the authors describe the use of synthetic DNA spike-ins, called sequins, as internal quantitative and qualitative controls throughout the sequencing workflow. They detail their application in whole-genome and targeted human genome sequencing.

James Blackburn
Ted Wong
Tim R. Mercer
Protocols19 Jun 2019
Nature Protocols

Volume: 14, P: 2119-2151
Biogeochemical and historical drivers of microbial community composition and structure in sediments from Mercer Subglacial Lake, West Antarctica

Christina L. Davis
Ryan A. Venturelli
Bob Zook
ResearchOpen Access30 Jan 2023
ISME Communications

Volume: 3, P: 1-11
Coherent diffraction of single Rice Dwarf virus particles using hard X-rays at the Linac Coherent Light Source

Anna Munke
Jakob Andreasson
James Zook
ResearchOpen Access01 Aug 2016
Scientific Data

Volume: 3, P: 1-12

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