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Chromosome-scale, haplotype-resolved assembly of human genomes

Assembly of phased human genomes is achieved by combining long reads and long-range conformational data.

Shilpa Garg
Arkarachai Fungtammasan
Heng Li
ResearchOpen Access07 Dec 2020
Nature Biotechnology

Volume: 39, P: 309-312
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
Author Correction: Targeting SWI/SNF ATPases in enhancer-addicted prostate cancer

Lanbo Xiao
Abhijit Parolia
Arul M. Chinnaiyan
Amendments and CorrectionsOpen Access22 Apr 2024
Nature

Volume: 629, P: E9
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
Haplotype-resolved genomes provide insights into structural variation and gene content in Angus and Brahman cattle

Taurine and indicine cattle have different desirable traits making them better adapted to different climates across the world. Here, Low et al. describe a pipeline to produce haplotype-resolved, chromosome-level genomes of Angus and Brahman cattle breeds from a crossbred individual and report on comparisons of the two genomes.

Wai Yee Low
Rick Tearle
John L. Williams
ResearchOpen Access29 Apr 2020
Nature Communications

Volume: 11, P: 1-14
Targeting SWI/SNF ATPases in enhancer-addicted prostate cancer

PROTAC degrader–induced SWI/SNF inactivation abolishes DNA accessibility at enhancer elements of oncogenes and also tempers supra-physiologic expression of driver transcription factors, resulting in potent inhibition of tumour growth in mouse models.

Lanbo Xiao
Abhijit Parolia
Arul M. Chinnaiyan
ResearchOpen Access22 Dec 2021
Nature

Volume: 601, P: 434-439
Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Research06 May 2020
Nature

Volume: 583, P: 90-95
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Amendments and Corrections17 Jul 2020
Nature

Volume: 584, P: E2
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery
Mike L. Smith
Andy G. Lynch
ResearchOpen Access22 Jan 2018
Scientific Reports

Volume: 8, P: 1-17
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery
Mike L. Smith
Andy G. Lynch
Amendments and CorrectionsOpen Access03 Sept 2018
Scientific Reports

Volume: 8, P: 1-4

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