(Q34590494)

3 August 2017

Single haplotype assembly of the human genome from a hydatidiform mole (English)

1 reference

3 August 2017

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

11

Deanna M Church

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

10

Wesley C Warren

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

12

Evan E Eichler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

9

Urvashi Surti

1 reference

8 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

Karyn Meltz Steinberg

1

object named as

Karyn Meltz Steinberg

1 reference

8 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

Tina A Graves-Lindsay

3

object named as

Tina A Graves-Lindsay

1 reference

8 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

Valerie A Schneider

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Robert S Fulton

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Richa Agarwala

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Sergey A Shiryev

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Aleksandr Morgulis

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Richard K Wilson

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

language of work or name

1 reference

4 November 2014

1 reference

3 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

page(s)

2066-2076

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

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

8 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=4248323

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Evolution and diversity of copy number variation in the great ape lineage

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Using population admixture to help complete maps of the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Enhanced membrane-tethered mucin 3 (MUC3) expression by a tetrameric branched peptide with a conserved TFLK motif inhibits bacteria adherence

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

The genetics of gestational trophoblastic disease: a rare complication of pregnancy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Modernizing reference genome assemblies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

High-quality draft assemblies of mammalian genomes from massively parallel sequence data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

The reference human genome demonstrates high risk of type 1 diabetes and other disorders.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Limitations of next-generation genome sequence assembly

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Diversity of human copy number variation and multicopy genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

mrsFAST: a cache-oblivious algorithm for short-read mapping.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

High-resolution human genome structure by single-molecule analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Characterization of missing human genome sequences and copy-number polymorphic insertions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Building the sequence map of the human pan-genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

The Sequence Alignment/Map format and SAMtools

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Fast and accurate short read alignment with Burrows-Wheeler transform

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Evolutionary toggling of the MAPT 17q21.31 inversion region

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Mapping and sequencing of structural variation from eight human genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

SOAP: short oligonucleotide alignment program

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Paired-end mapping reveals extensive structural variation in the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

A 360-kb interchromosomal duplication of the human HYDIN locus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

An initial map of insertion and deletion (INDEL) variation in the human genome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

WindowMasker: window-based masker for sequenced genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Segmental duplications and copy-number variation in the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Finishing the euchromatic sequence of the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

The DNA sequence and comparative analysis of human chromosome 5

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

An assessment of the sequence gaps: unfinished business in a finished human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

A physical map of the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Multiple transcripts of MUC3: evidence for two genes, MUC3A and MUC3B.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248323

Copy number variation at the breakpoint region of isochromosome 17q.

7 July 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.180893.114

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.180893.114

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.180893.114

Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.180893.114

Associations of distinct variants of the intestinal mucin gene MUC3A with ulcerative colitis and Crohn's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.180893.114

A 9.1-kb Gap in the Genome Reference Map Is Shown to Be a Stable Deletion/Insertion Polymorphism of Ancestral Origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.180893.114

The homozygous complete hydatidiform mole: a unique resource for genome studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.180893.114

New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25373144

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GR.180893.114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373144%20AND%20SRC:MED&resulttype=core&format=json