๐Ÿ“„ Paper Digest

2026๋…„ 04์›” 29์ผ (Wed) ยท Europe PMC ยท 4ํŽธ ยท IFโ‰ฅ10 0ํŽธ

Summary

Source

  • PubMed3
  • Preprint1

Top journals

  • American journal of human genetics1
  • (unspecified)1
  • Comparative biochemistry and physiology. Toxicology & pharmacology 1
  • Food chemistry1

Keyword

  • Somatic mosaicism0
  • mosaic1
  • mosaic variant0
  • methylation3
  • PacBio1

๐Ÿ“Œ Pinned

  • ๐Ÿ“Œ Cell0
  • ๐Ÿ“Œ Nature0
  • ๐Ÿ“Œ Science0
Keyword
์ „์ฒด 4Somatic mosaicism0mosaic1mosaic variant0methylation3PacBio1
Source
์ „์ฒดPubMed3Preprint1

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.

Dynamic changes in physicochemical properties and in vitro lipid-lowering function of pectic polysaccharides during pear post-harvest storage.IF=8.5

Chen L, Xu R, Zhou J, et al.
PubMedFood chemistry2026-04-19methylation
ํ•œ๊ธ€ ์š”์•ฝํ™ฉ๊ด€๋ฐฐ ํŽ™ํ‹ด์ด 4ยฐC์—์„œ 5๊ฐœ์›” ์ €์žฅ๋˜๋Š” ๋™์•ˆ ๋ฉ”ํ‹ธํ™”๋„(79.31โ†’71.88%)์™€ ๊ฐˆ๋ฝํˆฌ๋ก ์‚ฐ์ด ๊ฐ์†Œํ•˜๊ณ  ๋ถ„์ง€ยท๋ถ„์ž๋Ÿ‰ยท์ ๋„๊ฐ€ ์ฆ๊ฐ€ํ•˜๋ฉฐ ํ‘œ๋ฉด์ด ๊ฑฐ์น ์–ด์ง€๋Š” ๋ณ€ํ™”๋ฅผ ๋ถ„์„ํ–ˆ๋‹ค. ์‹ ์„ ํ•œ ๋ฐฐ์˜ ํŽ™ํ‹ด์ด ๋‹ด์ฆ™์‚ฐ ๊ฒฐํ•ฉยท์ฝœ๋ ˆ์Šคํ…Œ๋กค ๋ฏธ์…€ ์–ต์ œยทHepG2 ์„ธํฌ์˜ FASยทSREBP-1c ํ•˜ํ–ฅ ๋“ฑ ๋” ์ข…ํ•ฉ์ ์ธ ์ง€์งˆ ์ €ํ•˜ ํšจ๊ณผ๋ฅผ ๋ณด์˜€๋‹ค.

Heavy metal-induced epigenetic disruption in aquatic organisms: A review of mechanisms, impacts, and implications for ecotoxicology.IF=3.7

Gunasekara CWR, Rajapaksha LGTG, De Alwis PS.
PubMedComparative biochemistry and physiology. Toxicology & pharmacology : CBP2026-04-27methylation
ํ•œ๊ธ€ ์š”์•ฝ์ˆ˜์ƒ ์ƒํƒœ๊ณ„์˜ ์ค‘๊ธˆ์† ์˜ค์—ผ์ด ์ง์ ‘ ์„ธํฌ๋…์„ฑ ์™ธ์— DNA ๋ฉ”ํ‹ธํ™”ยทํžˆ์Šคํ†ค ๋ณ€ํ˜•ยทnon-coding RNA ๋“ฑ ํ›„์„ฑ์œ ์ „ ๊ธฐ์ „์„ ๊ต๋ž€ํ•ด ํ™˜๊ฒฝ ์ ์‘๊ณผ ๋ฐœ๋‹ฌ์— ์˜ํ–ฅ์„ ๋ฏธ์นœ๋‹ค๋Š” ์ฆ๊ฑฐ๋ฅผ ์ •๋ฆฌํ•œ ๋ฆฌ๋ทฐ๋‹ค. ํ™˜๊ฒฝ์ ์œผ๋กœ ์œ ์˜๋ฏธํ•œ ์ €์šฉ๋Ÿ‰ ๋…ธ์ถœ์—์„œ๋„ ํ›„์„ฑ์œ ์ „ ๋ณ€ํ™”๊ฐ€ ์ผ์–ด๋‚˜ generation์„ ๋„˜์–ด ์˜ํ–ฅ์„ ์ค„ ์ˆ˜ ์žˆ์–ด ์ƒํƒœ๋…์„ฑํ•™์— ์ƒˆ๋กœ์šด ๊ธฐ์ค€์ด ํ•„์š”ํ•จ์„ ๊ฐ•์กฐํ•œ๋‹ค.

Forensic Epigenetic Approaches In Human Biological Samples From Medico-Legal Investigations: A Systematic Review Of Public Health Applications For Age, Sex, And Lifestyle Estimation

Udom LU, Akaegbusi GR, Nwokike-Okoye DA, et al.
Preprint2026-04-28methylation
ํ•œ๊ธ€ ์š”์•ฝ๋ฒ•์˜ํ•™์  ํ›„์„ฑ์œ ์ „ํ•™(ํŠนํžˆ DNA ๋ฉ”ํ‹ธํ™” ๊ธฐ๋ฐ˜)์œผ๋กœ ์‹ ์› ์™ธ์— ์—ฐ๋ นยท์„ฑ๋ณ„ยท์ƒํ™œ์Šต๊ด€์„ ์ถ”์ •ํ•˜๋Š” ์ ‘๊ทผ์˜ ๊ฐ€๋Šฅ์„ฑ์„ 5๊ฑด์˜ ์—ฐ๊ตฌ๋ฅผ ๋Œ€์ƒ์œผ๋กœ ์ฒด๊ณ„์ ์œผ๋กœ ๊ฒ€ํ† ํ–ˆ๋‹ค. DNA ๋ฉ”ํ‹ธํ™” ๊ธฐ๋ฐ˜ ์—ฐ๋ น ์ถ”์ •์ด ๊ฐ€์žฅ ์ผ๊ด€๋˜๊ฒŒ ์‹ ๋ขฐํ•  ์ˆ˜ ์žˆ๋Š” ๋ฐฉ๋ฒ•์œผ๋กœ ํ™•์ธ๋˜์—ˆ์œผ๋ฉฐ, ์˜๋ฒ• ์กฐ์‚ฌ ๋ฐ ๊ณต์ค‘๋ณด๊ฑด ์ •๋ณดํ™”์— ํ™œ์šฉ ๊ฐ€๋Šฅ์„ฑ์ด ์‹œ์‚ฌ๋˜์—ˆ๋‹ค.