(Q33622610)

28396521

28 July 2017

title

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly (English)

1 reference

28 July 2017

15

1 reference

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5 June 2020

Kerstin Howe

3

1 reference

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5 June 2020

Terence D. Murphy

7

1 reference

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5 June 2020

Kim D. Pruitt

8

1 reference

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5 June 2020

William Chow

18

1 reference

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5 June 2020

Tim Hubbard

21

1 reference

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5 June 2020

Glen Threadgold

24

1 reference

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5 June 2020

James Torrance

25

1 reference

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5 June 2020

Laura Clarke

27

1 reference

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5 June 2020

Sergey Koren

28

1 reference

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5 June 2020

Heng Li

31

1 reference

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5 June 2020

Adam Phillippy

33

1 reference

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5 June 2020

Paul Flicek

36

1 reference

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5 June 2020

38

Deanna M Church

1 reference

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5 June 2020

37

Evan E Eichler

1 reference

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5 June 2020

34

Richard Durbin

1 reference

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5 June 2020

32

Chen-Shan Chin

1 reference

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5 June 2020

12

Milinn Kremitzki

1 reference

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5 June 2020

Tina A Graves-Lindsay

2

object named as

Tina Graves-Lindsay

1 reference

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5 June 2020

30

Paul Peluso

1 reference

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5 June 2020

Francoise Thibaud-Nissen

9

object named as

Françoise Thibaud-Nissen

1 reference

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5 June 2020

4

Nathan Bouk

1 reference

5 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28396521%20AND%20SRC:MED&resulttype=core&format=json

29

Matthew Boitano

1 reference

5 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28396521%20AND%20SRC:MED&resulttype=core&format=json

5

Hsiu-Chuan Chen

1 reference

5 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28396521%20AND%20SRC:MED&resulttype=core&format=json

Karyn Meltz Steinberg

16

object named as

Karyn Meltz Steinberg

1 reference

5 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28396521%20AND%20SRC:MED&resulttype=core&format=json

Valerie A Schneider

1

1 reference

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5 June 2020

Paul A Kitts

6

1 reference

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5 June 2020

Derek Albracht

10

1 reference

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5 June 2020

Robert S Fulton

11

1 reference

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5 June 2020

Vincent Magrini

13

1 reference

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5 June 2020

Chris Markovic

14

1 reference

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5 June 2020

Kate Auger

17

1 reference

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5 June 2020

Joanna Collins

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28396521%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Glenn Harden

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28396521%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Sarah Pelan

22

1 reference

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5 June 2020

Jared T Simpson

23

1 reference

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5 June 2020

Jonathan M Wood

26

1 reference

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5 June 2020

Richard K Wilson

35

1 reference

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5 June 2020

publication date

10 April 2017

1 reference

28 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28396521%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

27

1 reference

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5 June 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28396521%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

849-864

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28396521%20AND%20SRC:MED&resulttype=core&format=json

Phased diploid genome assembly with single-molecule real-time sequencing.

5 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Long-read sequencing and de novo assembly of a Chinese genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Extensive sequencing of seven human genomes to characterize benchmark reference materials

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Assembly: a resource for assembled genomes at NCBI.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Genetic variation and the de novo assembly of human genomes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

A global reference for human genetic variation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

FermiKit: assembly-based variant calling for Illumina resequencing data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Utilizing mapping targets of sequences underrepresented in the reference assembly to reduce false positive alignments

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Assembly and diploid architecture of an individual human genome via single-molecule technologies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Assembling large genomes with single-molecule sequencing and locality-sensitive hashing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Sharing and Specificity of Co-expression Networks across 35 Human Tissues

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Improved genome inference in the MHC using a population reference graph

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Assessing structural variation in a personal genome-towards a human reference diploid genome.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Using optical mapping data for the improvement of vertebrate genome assemblies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

A naturally occurring null variant of the NMDA type glutamate receptor NR3B subunit is a risk factor of schizophrenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Extending reference assembly models

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Building a pan-genome reference for a population

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Pilon: an integrated tool for comprehensive microbial variant detection and genome assembly improvement

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Resolving the complexity of the human genome using single-molecule sequencing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Single haplotype assembly of the human genome from a hydatidiform mole

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

A framework for the interpretation of de novo mutation in human disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Toward better understanding of artifacts in variant calling from high-coverage samples

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Centromere reference models for human chromosomes X and Y satellite arrays.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Reconstructing complex regions of genomes using long-read sequencing technology

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

CrossMap: a versatile tool for coordinate conversion between genome assemblies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

ClinVar: public archive of relationships among sequence variation and human phenotype

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Independent specialization of the human and mouse X chromosomes for the male germ line

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

HAL: a hierarchical format for storing and analyzing multiple genome alignments

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Using population admixture to help complete maps of the human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Reevaluating assembly evaluations with feature response curves: GAGE and assemblathons

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Clone DB: an integrated NCBI resource for clone-associated data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

An integrated map of genetic variation from 1,092 human genomes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

DNA template strand sequencing of single-cells maps genomic rearrangements at high resolution

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

GENCODE: the reference human genome annotation for The ENCODE Project

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Limitations of the human reference genome for personalized genomics

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Assemblathon 1: a competitive assessment of de novo short read assembly methods

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Modernizing reference genome assemblies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Genome assembly has a major impact on gene content: a comparison of annotation in two Bos taurus assemblies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Efficient storage of high throughput DNA sequencing data using reference-based compression

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Different patterns of evolution in the centromeric and telomeric regions of group A and B haplotypes of the human killer cell Ig-like receptor locus

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Diversity of human copy number variation and multicopy genes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

A map of human genome variation from population-scale sequencing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

High-resolution human genome structure by single-molecule analysis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

A Draft Sequence of the Neandertal Genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Building the sequence map of the human pan-genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Evolutionary toggling of the MAPT 17q21.31 inversion region

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

The diploid genome sequence of an Asian individual

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Mapping and sequencing of structural variation from eight human genomes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Variation analysis and gene annotation of eight MHC haplotypes: the MHC Haplotype Project

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

The diploid genome sequence of an individual human

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

A haplotype map of the human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Segmental duplications and copy-number variation in the human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Finishing the euchromatic sequence of the human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

The DNA sequence and comparative analysis of human chromosome 5

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Segmental duplications: organization and impact within the current human genome project assembly

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

Initial sequencing and analysis of the human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5411779

De novo assembly of a haplotype-resolved human genome.

14 July 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.213611.116

Paternal Origins of Complete Hydatidiform Moles Proven by Whole Genome Single-Nucleotide Polymorphism Haplotyping

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.213611.116

De novo assembly and phasing of a Korean human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.213611.116

Adaptive evolution of UGT2B17 copy-number variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.213611.116

A graph extension of the positional Burrows-Wheeler transform and its applications

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28396521

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GR.213611.116

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28396521%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28396521%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

28396521

1 reference