mosaic ํ‚ค์›Œ๋“œ

์ด 20ํŽธ ยท IFโ‰ฅ10 0ํŽธ ยท ์ตœ์‹ ์ˆœ

2026๋…„ 05์›” 07์ผ (Thu)

1ํŽธ ยท ํ•˜๋ฃจ ์ „์ฒด ๋ณด๊ธฐ โ†’

2026๋…„ 05์›” 06์ผ (Wed)

2ํŽธ ยท ํ•˜๋ฃจ ์ „์ฒด ๋ณด๊ธฐ โ†’

2026๋…„ 05์›” 04์ผ (Mon)

1ํŽธ ยท ํ•˜๋ฃจ ์ „์ฒด ๋ณด๊ธฐ โ†’

Genomic and Functional Characterization of a Cross-Genus Temperate Bacteriophage vB_SU_S_SVV09 Infecting Staphylococcus and Proteus Species

K.S LS, Guha PK, Vallabhaneni S, et al.
Preprint2026-04-29mosaic
ํ•œ๊ธ€ ์š”์•ฝStaphylococcus์™€ Proteus๋ฅผ ๋ชจ๋‘ ๊ฐ์—ผ์‹œํ‚ค๋Š” ๊ด‘๋ฒ”์œ„ ๊ธฐ์ฃผ ๋ฐ•ํ…Œ๋ฆฌ์˜คํŒŒ์ง€ vB_SU_S_SVV09๋ฅผ ๊ฒŒ๋†ˆยท๊ธฐ๋Šฅ์ ์œผ๋กœ ํŠน์„ฑํ™”ํ–ˆ๋‹ค. ๊ธฐ์กด ๋Œ€๋น„ ๋„“์€ host range๊ฐ€ ์ž„์ƒ ๋‹ค๊ท ์ฃผ ๊ฐ์—ผ์— ๋Œ€ํ•œ ํŒŒ์ง€์น˜๋ฃŒ์˜ ํ›„๋ณด๊ฐ€ ๋  ์ˆ˜ ์žˆ์Œ์„ ์‹œ์‚ฌํ•œ๋‹ค.

2026๋…„ 05์›” 02์ผ (Sat)

8ํŽธ ยท ํ•˜๋ฃจ ์ „์ฒด ๋ณด๊ธฐ โ†’

Experimental host range and pathogenicity on maize of maize striate mosaic virus transmitted by the corn leafhopper. IF=4.4

Vilanova ES, Lopes JRS.
PubMedPlant disease2026-05-01mosaic
ํ•œ๊ธ€ ์š”์•ฝ๋‚จ๋ฏธ ์‹ ํฅ mastrevirus์ธ maize striate mosaic virus(MSMV)์˜ leafhopper ๋งค๊ฐœ ์˜ฅ์ˆ˜์ˆ˜ ๋ณ‘์›์„ฑ๊ณผ 17์ข… ์ž‘๋ฌผ ๊ธฐ์ฃผ ๋ฒ”์œ„๋ฅผ ์˜จ์‹ค ์‹คํ—˜์œผ๋กœ ํ‰๊ฐ€ํ–ˆ๋‹ค. MSMV์˜ ์˜ฅ์ˆ˜์ˆ˜ ์™ธ ๊ธฐ์ฃผ ๊ฐ€๋Šฅ์„ฑ๊ณผ ์ž ์žฌ ํ”ผํ•ด ๊ทœ๋ชจ๊ฐ€ ํ™•์ธ๋˜์–ด ์ž‘๋ฌผ ๊ฒ€์—ญยท๋ฐฉ์ œ ์ „๋žต ์ˆ˜๋ฆฝ์˜ ๊ทผ๊ฑฐ๋ฅผ ์ œ๊ณตํ•œ๋‹ค.

Engineering the 3'-UTR of Tobacco Vein Mottling Virus to Confer Cross-Protection Against Potyviruses. IF=4.8

Wang H, Sun Z, Zhang B, et al.
PubMedMolecular plant pathology2026-05-01mosaic
ํ•œ๊ธ€ ์š”์•ฝTobacco vein mottling virus(TVMV)์˜ 3' ๋น„๋ฒˆ์—ญ์˜์—ญ(UTR)์— 58 nt์˜ 'AT' ๋‹จํŽธ์„ ์‚ฝ์ž…ํ•œ ๋ณ€์ด์ฃผ TVMV58์„ ์ œ์ž‘ํ•ด ์ž ๋‘ ๋“ฑ์—์„œ cross-protection ํšจ๊ณผ๋ฅผ ํ‰๊ฐ€ํ–ˆ๋‹ค. ์•ฝ๋…ํ™”๋œ ๋ณ€์ด์ฃผ๊ฐ€ ์•ผ์ƒ์ฃผ ๊ฐ์—ผ์„ ์ฐจ๋‹จํ•ด potyviruses์— ๋Œ€ํ•œ ๊ต์ฐจ ๋ฐฉ์–ด์šฉ ๋ฐฑ์‹  ํ›„๋ณด๋กœ ํ™œ์šฉ ๊ฐ€๋Šฅ์„ฑ์„ ๋ณด์˜€๋‹ค.

System understanding shapes insights for eco-design: a comparison of four temporal perspectives

Arblaster T, Guinรฉe J, Rocha CFB, et al.
Preprint2026-04-29mosaic
ํ•œ๊ธ€ ์š”์•ฝ์—์ฝ”๋””์ž์ธ ์ง€์›์„ ์œ„ํ•œ LCA๊ฐ€ ๋ฏธ๋ž˜ ๋ณ€ํ™”๋ฅผ ์–ด๋–ป๊ฒŒ ๋‹ค๋ค„์•ผ ํ• ์ง€๋ฅผ 4๊ฐ€์ง€ ์‹œ๊ฐ„ ๊ด€์ (steady-state, prospective, time-explicit, integrated)์—์„œ ๋น„๊ตํ•œ ๋ฐฉ๋ฒ•๋ก  ์—ฐ๊ตฌ๋‹ค. ๊ฐ ๊ด€์ ์ด ์‹œ์Šคํ…œ ์ดํ•ด์™€ ๋ฐ์ดํ„ฐ ์ˆ˜์š”ยทํ†ต์ฐฐ๋ ฅ ์ธก๋ฉด์—์„œ ์ƒํ˜ธ ๋ณด์™„์ ์ž„์„ ๋ณด์—ฌ LCA ์‹œ๊ฐ„ ๋ชจ๋ธ ์„ ํƒ์˜ ๊ฐ€์ด๋“œ๋ผ์ธ์„ ์ œ์‹œํ•œ๋‹ค.

Spatiotemporal DUX4 toxicity in FSHD: from epigenetic derepression to biomarker-driven targeted therapies. IF=2.5

Mariot V, Bloch RJ, Badiani R, et al.
PubMedNeuromuscular disorders : NMD2026-03-31mosaic
ํ•œ๊ธ€ ์š”์•ฝFSHD๋Š” 4q35 D4Z4 ๋ฐ˜๋ณต์„œ์—ด์˜ ํ›„์„ฑ์œ ์ „ ์–ต์ œ ํ•ด์ œ์™€ 4q distal permissive haplotype์˜ ๊ฒฐํ•ฉ์œผ๋กœ ๋ฐœ์ƒํ•ด ๊ณจ๊ฒฉ๊ทผ์— DUX4๊ฐ€ ๋น„์ •์ƒ ๋ฐœํ˜„๋˜๋Š” gain-of-function ์งˆํ™˜์ด๋‹ค. DUX4 ๋…์„ฑ ์‹œ๊ณต๊ฐ„ ํŒจํ„ด, ํ›„์„ฑ์œ ์ „ derepression ๊ธฐ์ „, ๋ฐ”์ด์˜ค๋งˆ์ปค ๊ธฐ๋ฐ˜ ํ‘œ์  ์น˜๋ฃŒ ์ „๋žต(ASOs, p38 inhibitors ๋“ฑ)์„ ์ •๋ฆฌํ•œ ๋ฆฌ๋ทฐ๋‹ค.

Understanding mosaicism: A primer for clinicians. IF=1.4

Tinkle MB, Daack-Hirsch S.
PubMedJournal of the American Association of Nurse Practitioners2026-05-01mosaic
ํ•œ๊ธ€ ์š”์•ฝ๋ฐœ์ƒ ํ›„ ๋ชจ์ž์ด์‹œ์ฆ˜์ด ์ž„์ƒ ์ง„๋‹จยท์œ ์ „ ์ƒ๋‹ดยท์น˜๋ฃŒ์— ๋ฏธ์น˜๋Š” ์˜ํ–ฅ์„ ์ž„์ƒ์˜๋ฅผ ์œ„ํ•ด ์ •๋ฆฌํ•œ ์ž…๋ฌธ์šฉ ๋ฆฌ๋ทฐ๋‹ค. ๊ฒ€์ถœ ๊ธฐ์ˆ (๋”ฅ ์‹œํ€€์‹ฑยท์žฅ์ฝ๊ธฐ), ๊ฒ€์ถœ ํ•œ๊ณ„, ์นœ์ž/์ƒ์‹์„ธํฌ ๋ชจ์ž์ด์‹œ์ฆ˜์˜ ์œ„ํ—˜ ํ‰๊ฐ€ ์›์น™์„ ์ข…ํ•ฉํ•œ๋‹ค.

Mitochondrial Activity Localization in the Skeletal Muscle and Its Individual Fibers Across Tetrapods. IF=2.4

Senapati U, Rout S, Pani S, et al.
PubMedBiology of the cell2026-05-01mosaic
ํ•œ๊ธ€ ์š”์•ฝ์‚ฌ์ง€๋™๋ฌผ ๊ณจ๊ฒฉ๊ทผ์˜ ๋ฏธํ† ์ฝ˜๋“œ๋ฆฌ์•„ ํ™œ์„ฑ ๋ถ„ํฌ๊ฐ€ ์ข…ยท๊ทผ์„ฌ์œ ยท์ถ•์— ๋”ฐ๋ผ ์–ด๋–ป๊ฒŒ ๋‹ค๋ฅธ์ง€ ๋น„๊ต ๋ถ„์„ํ–ˆ๋‹ค. ๋ฏธํ† ์ฝ˜๋“œ๋ฆฌ์•„ ๋ถ„ํฌ๊ฐ€ ATPaseยท์ˆ˜์ถ•ํ•„๋ผ๋ฉ˜ํŠธ์˜ ์œ„์น˜์™€ ์ •๋ฐ€ํ•˜๊ฒŒ ์—ฐ๋™๋˜์–ด ๊ทผ์„ฌ์œ ์˜ ์—๋„ˆ์ง€ ์ˆ˜์š”๋ฅผ ์ถฉ์กฑํ•˜๋Š” ์ง„ํ™”์  ์ ์‘์„ ๋ณด์—ฌ์ค€๋‹ค.

Differentiation of Fat-Poor Renal Angiomyolipoma From Clear Cell Renal Cell Carcinoma: Diagnostic Performance of a Novel Type of Color Contrast Enhanced Ultrasound. IF=2.9

Du Y, Wang X, Jiang B, et al.
PubMedCancer medicine2026-05-01mosaic
ํ•œ๊ธ€ ์š”์•ฝ์ง€๋ฐฉ์ด ์ ์€ ์‹ ์žฅ angiomyolipoma(RAML.wvf)์™€ clear cell RCC๋ฅผ ๊ฐ๋ณ„ํ•˜๊ธฐ ์œ„ํ•ด ์ƒˆ๋กœ์šด Color Parameter Imaging(CPI) CEUS ๊ธฐ๋ฒ•์˜ ์ง„๋‹จ ๋Šฅ๋ ฅ์„ ํ‰๊ฐ€ํ–ˆ๋‹ค. CPI์˜ ์‹œ๊ฐ„์  ๊ด€๋ฅ˜ ํŒจํ„ด ์ •๋Ÿ‰ ๋ถ„์„์ด ๋‘ ์งˆํ™˜ ๊ฐ๋ณ„์— ์œ ์˜ํ•œ ์ง„๋‹จ ์„ฑ๋Šฅ์„ ๋ณด์˜€๋‹ค.

Sexually dimorphic organization of extracellular matrix and perineuronal nets in the prairie vole (Microtus ochrogaster) social brain

Castro AE, Uriarte N, Camacho FJ, et al.
Preprint2026-04-29mosaic
ํ•œ๊ธ€ ์š”์•ฝ์ดˆ์›๋ฐญ์ฅ(prairie vole) ์‚ฌํšŒ ๋‡Œ์˜ ECM๊ณผ perineuronal nets(PNN) ๋ถ„ํฌ๊ฐ€ ์„ฑ์— ๋”ฐ๋ผ ๋‹ค๋ฅธ์ง€ ๋งคํ•‘ํ•œ ์ฒซ ๋น„๊ต ์—ฐ๊ตฌ๋‹ค. ์‚ฌํšŒํ–‰๋™ ๊ด€๋ จ ๋‡Œ์˜์—ญ์—์„œ PNN ๋ฐ€๋„์™€ ๋ถ„ํฌ์˜ ์„ฑ์  ์ดํ˜•์ด ํ™•์ธ๋˜์–ด, ECM์ด ์‚ฌํšŒํ–‰๋™ ์‹ ๊ฒฝํšŒ๋กœ์˜ ์„ฑ์ฐจ์— ๊ธฐ์—ฌํ•  ์ˆ˜ ์žˆ์Œ์„ ์‹œ์‚ฌํ•œ๋‹ค.

2026๋…„ 05์›” 01์ผ (Fri)

3ํŽธ ยท ํ•˜๋ฃจ ์ „์ฒด ๋ณด๊ธฐ โ†’

Beyond tumors: uninvolved breast tissue of breast cancer patients with adverse prognoses is enriched for pathogenic PIK3CA and TP53 post-zygotic variants.IF=3.4

Andreou M, Chojnowska K, Filipowicz N, et al.
PubMedBMC cancer2026-04-30mosaic
ํ•œ๊ธ€ ์š”์•ฝ์œ ๋ฐฉ์•” ํ™˜์ž 77๋ช…์˜ ์ข…์–‘ ๋น„ํฌํ•จ ์ •์ƒ์กฐ์ง์—์„œ PIK3CAยทTP53 ๋“ฑ ํ›„์ˆ˜์ • ๋ชจ์ž์ด์‹œ์ฆ˜ ๋ณ€์ด๊ฐ€ ํ’๋ถ€ํ•จ์„ ์ „์—‘์†œ ์‹œํ€€์‹ฑ์œผ๋กœ ํ™•์ธํ–ˆ๋‹ค. ์ •์ƒ ์กฐ์ง์˜ ๋ฐœ์•” ๋ณ€์ด ํ’๋ถ€๋„๊ฐ€ ์˜ˆํ›„ ๋ถˆ๋Ÿ‰๊ณผ ์—ฐ๊ด€๋˜์–ด ์œ ๋ฐฉ์•” ๋ฐœ๋‹ฌ ์ด์ „ ๋‹จ๊ณ„์˜ ๋ถ„์ž์  ๊ธฐ๋ฐ˜์„ ์ œ์‹œํ•œ๋‹ค.

Patterns of bronchoalveolar lavage in fibrotic and non-fibrotic interstitial lung diseases - a multicenter analysis.IF=2.5

Gershman E, Freund O, Wand O, et al.
PubMedBMC pulmonary medicine2026-04-30mosaic
ํ•œ๊ธ€ ์š”์•ฝ๋‹ค๊ธฐ๊ด€ ์ž๋ฃŒ๋ฅผ ์‚ฌ์šฉํ•ด ์„ฌ์œ ํ™”ยท๋น„์„ฌ์œ ํ™” ๊ฐ„์งˆ์„ฑ ํ์งˆํ™˜(ILD)์˜ BAL ์„ธํฌ ํ”„๋กœํŒŒ์ผ์„ ๋น„๊ตํ–ˆ๋‹ค. ์„ฌ์œ ํ™” ILD์—์„œ๋Š” ํ˜ธ์ค‘๊ตฌ ์šฐ์„ธ, ๋น„์„ฌ์œ ํ™”์—์„œ๋Š” ๋ฆผํ”„๊ตฌ ์šฐ์„ธ ํŒจํ„ด์ด ๋‘๋“œ๋Ÿฌ์ ธ BAL์ด ILD ๋ถ„๋ฅ˜ ๋ณด์กฐ ์ง€ํ‘œ๋กœ ํ™œ์šฉ๋  ์ˆ˜ ์žˆ์Œ์„ ์‹œ์‚ฌํ•œ๋‹ค.

Haplotype Threading Using the Positional Burrows-Wheeler Transform.

Sanaullah A, Zhi D, Zhang S.
PubMedAlgorithms in bioinformatics : ... International Workshop, WABI ..., proceedings. WABI (Workshop)2022-08-01mosaic
ํ•œ๊ธ€ ์š”์•ฝPBWT(positional Burrows-Wheeler transform)๋ฅผ ํ™œ์šฉํ•ด Li-Stephens HMM ๊ธฐ๋ฐ˜ haplotype threading์˜ ์‹œ๊ฐ„ ๋ณต์žก๋„๋ฅผ ๋ฐ”์ด์˜ค๋ฑ…ํฌ ๊ทœ๋ชจ์—์„œ ํšจ์œจํ™”ํ•˜๋Š” ์•Œ๊ณ ๋ฆฌ์ฆ˜์„ ์ œ์‹œํ–ˆ๋‹ค. ๋ณธ ๋ฐฉ๋ฒ•์€ ๋Œ€๊ทœ๋ชจ ํŒจ๋„ ๋งคํ•‘ยทimputationยท๊ณ„ํ†ต ๋ถ„์„์„ ๊ฐ€์†ํ•˜๋Š” ํ† ๋Œ€๋ฅผ ์ œ๊ณตํ•œ๋‹ค.

2026๋…„ 04์›” 30์ผ (Thu)

4ํŽธ ยท ํ•˜๋ฃจ ์ „์ฒด ๋ณด๊ธฐ โ†’

Constitutive, Mosaic Expression of TIE2 p.L914F During Mouse Development Causes Venous Malformation.IF=4.4

Bischoff LJ, Sherpa C, Schrenk S, et al.
PubMedFASEB journal : official publication of the Federation of American Societies for Experimental Biology2026-05-01mosaic
ํ•œ๊ธ€ ์š”์•ฝTIE2 p.L914F ํ™œ์„ฑ ๋Œ์—ฐ๋ณ€์ด๋Š” ์ •๋งฅ๊ธฐํ˜•(VM)์„ ์œ ๋ฐœํ•˜์ง€๋งŒ ๋ฐœ๋‹ฌ๊ธฐ ๋ชจ์ž์ด์‹œ์ฆ˜ ํ‘œํ˜„ํ˜•์˜ ์ง์ ‘ ์ž…์ฆ์€ ์—†์—ˆ๋‹ค. ๋ณธ ์—ฐ๊ตฌ๋Š” ๋งˆ์šฐ์Šค ๋ฐœ๋‹ฌ๊ธฐ์— ๋ณธ ๋Œ์—ฐ๋ณ€์ด๋ฅผ ๋ชจ์ž์ด์‹œ์ฆ˜ ํ˜•ํƒœ๋กœ ๋ฐœํ˜„์‹œ์ผœ ์ •๋งฅ๊ธฐํ˜• ํ‘œํ˜„ํ˜•์„ ์‹คํ—˜์ ์œผ๋กœ ์žฌํ˜„ํ•ด, VM์˜ ์ฒด์„ธํฌ ๋ชจ์ž์ด์‹œ์ฆ˜ ๋ณ‘์ธ์„ ์ธ vivo๋กœ ํ™•์ธํ–ˆ๋‹ค.

Targeted knockout of a host peroxisomal peptidase confers field resistance to maize lethal necrosis.IF=9.4

Jung M, Wen Z, Humbert S, et al.
PubMedProceedings of the National Academy of Sciences of the United States of America2026-04-30mosaic
ํ•œ๊ธ€ ์š”์•ฝMCMV์™€ SCMV ๊ณต๋™ ๊ฐ์—ผ์œผ๋กœ ๋ฐœ์ƒํ•˜๋Š” maize lethal necrosis(MLN)์— ๋Œ€ํ•œ 6๋ฒˆ ์—ผ์ƒ‰์ฒด ์ฃผํšจ QTL์„ ๋ถ„์„ํ•ด host peroxisomal peptidase๊ฐ€ ๊ด€์—ฌํ•จ์„ ๋™์ •ํ–ˆ๋‹ค. ์ด ํŽฉํ‹ฐ๋‹ค์ œ๋ฅผ ํ‘œ์  ๋…น์•„์›ƒํ•˜๋ฉด ์‚ฌํ•˜๋ผ ์ด๋‚จ ์•„ํ”„๋ฆฌ์นด ์˜ฅ์ˆ˜์ˆ˜ ํ’ˆ์ข…์— ์•ผ์™ธ ์ €ํ•ญ์„ฑ์„ ๋ถ€์—ฌํ•  ์ˆ˜ ์žˆ์–ด, ์‹๋Ÿ‰ ์•ˆ๋ณด๋ฅผ ์œ„ํ˜‘ํ•˜๋Š” MLN์— ๋Œ€ํ•œ ์ƒˆ ๋ถ„์ž์œก์ข… ํ‘œ์ ์„ ์ œ์‹œํ•œ๋‹ค.

Drug-Induced Blaschkitis Associated With Dipeptidyl Peptidase-4 Inhibitor: A Case Report and Review of the Literature.

Suzaki Y, Aoyama Y.
PubMedThe Journal of dermatology2026-04-28mosaic
ํ•œ๊ธ€ ์š”์•ฝDPP-4 ์ €ํ•ด์ œ ๋ณต์šฉ ํ›„ ๋‹ค๋ฐœ์„ฑ ํ™๋ฐ˜์„ฑ ๊ตฌ์ง„์„ฑ ํ”Œ๋ผํฌ๊ฐ€ Blaschko ๋ผ์ธ์„ ๋”ฐ๋ผ ๋ฐœ์ƒํ•œ ์•ฝ๋ฌผ์œ ๋ฐœ Blaschkitis 1๋ก€๋ฅผ ๋ณด๊ณ ํ–ˆ๋‹ค. ์ด์ „ ๋ฌธํ—Œ๊ณผ ๋น„๊ตํ•ด ์•ฝ๋ฌผ ์œ ๋ฐœ Blaschkitis๋Š” ์ฒด์„ธํฌ ๋ชจ์ž์ด์‹œ์ฆ˜ ์˜์—ญ์˜ ํ›„์„ฑ์œ ์ „ ๋ณ€ํ™” ๋˜๋Š” ๋ฉด์—ญ ๋ฐ˜์‘์ด ์ž„์ƒ์ ์œผ๋กœ ๋…ธ์ถœ๋˜๋Š” ๊ธฐ์ „์„ ์‹œ์‚ฌํ•˜๋ฉฐ ์ž„์ƒ์˜์˜ ์ธ์ง€ ์ œ๊ณ ๋ฅผ ๊ฐ•์กฐํ•œ๋‹ค.

Decentralized nanopore genomics reveals diverse <i>Klebsiella pneumoniae</i> and no evidence of patient-patient transmission in a New Zealand hospital.IF=3.5

White RT, Bakker S, Burton M, et al.
PubMedMicrobial genomics2026-04-01mosaic
ํ•œ๊ธ€ ์š”์•ฝ๋‰ด์งˆ๋žœ๋“œ Wellington Regional Hospital์—์„œ 15๊ฐœ์›” ๋™์•ˆ ์ง„๋‹จ๊ฒ€์‚ฌ์‹ค์— ONT MinION์„ ํ†ตํ•ฉํ•œ K. pneumoniae ๋ถ„์‚ฐํ˜• ๊ฒŒ๋†ˆ ๊ฐ์‹œ ํŒŒ์ผ๋Ÿฟ์„ ์ˆ˜ํ–‰ํ–ˆ๋‹ค. ๋‹ค์–‘ํ•œ ๊ท ์ฃผ๊ฐ€ ๋ถ„๋ฆฌ๋˜์—ˆ์œผ๋‚˜ ํ™˜์ž ๊ฐ„ ์ „ํŒŒ ์ฆ๊ฑฐ๋Š” ๋ฐœ๊ฒฌ๋˜์ง€ ์•Š์•„, ๋ถ„์‚ฐํ˜• ๋‚˜๋…ธํฌ์–ด ๊ฐ์‹œ๊ฐ€ ์ง€์—ญ ๋ณ‘์› ๋‹จ์œ„์—์„œ ์‹ค์‹œ๊ฐ„ ์—ญํ•™ ์ •๋ณด๋ฅผ ์ œ๊ณตํ•  ์ˆ˜ ์žˆ์Œ์„ ๋ณด์˜€๋‹ค.

2026๋…„ 04์›” 29์ผ (Wed)

1ํŽธ ยท ํ•˜๋ฃจ ์ „์ฒด ๋ณด๊ธฐ โ†’

Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples.IF=9.0

Devaney JM, Chong JX, Lopes PC, et al.
PubMedAmerican journal of human genetics2026-04-27mosaicPacBio
ํ•œ๊ธ€ ์š”์•ฝ๋‹จ์ฝ๊ธฐ ์‹œํ€€์‹ฑ์ด ๊ฒ€์ถœ์— ์•ฝํ•œ ๋ณ‘์›์„ฑ ๋ณ€์ด(VDD)์˜ ์ž„์ƒ ์ง„๋‹จ์„ ๋ณด๊ฐ•ํ•˜๊ธฐ ์œ„ํ•ด PacBio HiFi ์žฅ์ฝ๊ธฐ ๊ฒŒ๋†ˆ ์‹œํ€€์‹ฑ์„ 191๋ช… prober์— ์ ์šฉํ–ˆ๋‹ค. ์ž๋™ ํŒŒ์ดํ”„๋ผ์ธ์ด 481๊ฐœ ์งˆ๋ณ‘ ์›์ธ ๋ณ€์ด ์ค‘ 479๊ฐœ(99.6%)๋ฅผ ๊ฒ€์ถœํ–ˆ๊ณ , ๋ฏธ๊ฒ€์ถœ ๋‘ ๊ฑด์€ ๋ชจ์ž์ด์‹œ์ฆ˜ ๋น„์œจ์ด ๋‚ฎ์€ trisomy 18(23%)๊ณผ 5,594 bp ๊ฒฐ์‹ค(13%)์ด์—ˆ๋‹ค.