Jean Monlong
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Explore the profile of Jean Monlong including associated specialties, affiliations and a list of published articles.
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42
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3976
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Recent Articles
1.
Monlong J, Chen X, Barseghyan H, Rowell W, Negi S, Nokoff N, et al.
medRxiv
. 2025 Feb;
PMID: 39990550
Congenital Adrenal Hyperplasia (CAH), one of the most common inherited disorders, is caused by defects in adrenal steroidogenesis. It is potentially lethal if untreated and is associated with multiple comorbidities,...
2.
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Negi S, Stenton S, Berger S, Canigiula P, McNulty B, Violich I, et al.
Am J Hum Genet
. 2025 Jan;
112(2):428-449.
PMID: 39862869
More than 50% of families with suspected rare monogenic diseases remain unsolved after whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap by capturing...
3.
Billingsley K, Meredith M, Daida K, Jerez P, Negi S, Malik L, et al.
bioRxiv
. 2025 Jan;
PMID: 39764002
Structural variants (SVs) drive gene expression in the human brain and are causative of many neurological conditions. However, most existing genetic studies have been based on short-read sequencing methods, which...
4.
Novak A, Chung D, Hickey G, Djebali S, Yokoyama T, Garrison E, et al.
bioRxiv
. 2024 Oct;
PMID: 39464141
The current reference genome is the backbone of diverse and rich annotations. Simple text formats, like VCF or BED, have been widely adopted and helped the critical exchange of genomic...
5.
Siren J, Eskandar P, Ungaro M, Hickey G, Eizenga J, Novak A, et al.
Nat Methods
. 2024 Sep;
21(11):2017-2023.
PMID: 39261641
Pangenomes reduce reference bias by representing genetic diversity better than a single reference sequence. Yet when comparing a sample to a pangenome, variants in the pangenome that are not part...
6.
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Negi S, Stenton S, Berger S, McNulty B, Violich I, Gardner J, et al.
medRxiv
. 2024 Sep;
PMID: 39228712
More than 50% of families with suspected rare monogenic diseases remain unsolved after whole genome analysis by short read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap...
7.
Yan J, Monlong J, Cougoule C, Lacroix-Lamande S, Wiedemann A
Vet Res
. 2024 Jun;
55(1):81.
PMID: 38926765
The escalation of antibiotic resistance, pandemics, and nosocomial infections underscores the importance of research in both animal and human infectious diseases. Recent advancements in three-dimensional tissue cultures, or "organoids", have...
8.
Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References
Taylor D, Eizenga J, Li Q, Das A, Jenike K, Kenny E, et al.
Annu Rev Genomics Hum Genet
. 2024 Apr;
25(1):77-104.
PMID: 38663087
The Human Genome Project was an enormous accomplishment, providing a foundation for countless explorations into the genetics and genomics of the human species. Yet for many years, the human genome...
9.
Lorig-Roach R, Meredith M, Monlong J, Jain M, Olsen H, McNulty B, et al.
Genome Res
. 2024 Apr;
34(3):454-468.
PMID: 38627094
Reference-free genome phasing is vital for understanding allele inheritance and the impact of single-molecule DNA variation on phenotypes. To achieve thorough phasing across homozygous or repetitive regions of the genome,...
10.
Kuzmin E, Baker T, Lesluyes T, Monlong J, Abe K, Coelho P, et al.
Cell Rep
. 2024 Mar;
43(4):113988.
PMID: 38517886
The basal breast cancer subtype is enriched for triple-negative breast cancer (TNBC) and displays consistent large chromosomal deletions. Here, we characterize evolution and maintenance of chromosome 4p (chr4p) loss in...