m+Medelevator.RU
← Поиск публикаций
Nature · 2023

The complete sequence of a human Y chromosome.

СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Rhie Arang, Nurk Sergey, Cechova Monika, Hoyt Savannah J, Taylor Dylan J, Altemose Nicolas, Hook Paul W, Koren Sergey, Rautiainen Mikko, Alexandrov Ivan A, Allen Jamie, Asri Mobin, Bzikadze Andrey V, Chen Nae-Chyun, Chin Chen-Shan, Diekhans Mark, Flicek Paul, Formenti Giulio, Fungtammasan Arkarachai, Garcia Giron Carlos, Garrison Erik, Gershman Ariel, Gerton Jennifer L, Grady Patrick G S, Guarracino Andrea, Haggerty Leanne, Halabian Reza, Hansen Nancy F, Harris Robert, Hartley Gabrielle A, Harvey William T, Haukness Marina, Heinz Jakob, Hourlier Thibaut, Hubley Robert M, Hunt Sarah E, Hwang Stephen, Jain Miten, Kesharwani Rupesh K, Lewis Alexandra P, Li Heng, Logsdon Glennis A, Lucas Julian K, Makalowski Wojciech, Markovic Christopher, Martin Fergal J, Mc Cartney Ann M, McCoy Rajiv C, McDaniel Jennifer, McNulty Brandy M, Medvedev Paul, Mikheenko Alla, Munson Katherine M, Murphy Terence D, Olsen Hugh E, Olson Nathan D, Paulin Luis F, Porubsky David, Potapova Tamara, Ryabov Fedor, Salzberg Steven L, Sauria Michael E G, Sedlazeck Fritz J, Shafin Kishwar, Shepelev Valery A, Shumate Alaina, Storer Jessica M, Surapaneni Likhitha, Taravella Oill Angela M, Thibaud-Nissen Françoise, Timp Winston, Tomaszkiewicz Marta, Vollger Mitchell R, Walenz Brian P, Watwood Allison C, Weissensteiner Matthias H, Wenger Aaron M, Wilson Melissa A, Zarate Samantha, Zhu Yiming, Zook Justin M, Eichler Evan E, O'Neill Rachel J, Schatz Michael C, Miga Karen H, Makova Kateryna D, Phillippy Adam M

Аннотация

The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications1-3. As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequence and it remains the last human chromosome to be finished4,5. Here, the Telomere-to-Telomere (T2T) consortium presents the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference, showing the complete ampliconic structures of gene families TSPY, DAZ and RBMY; 41 additional protein-coding genes, mostly from the TSPY family; and an alternating pattern of human satellite 1 and 3 blocks in the heterochromatic Yq12 region. We have combined T2T-Y with a previous assembly of the CHM13 genome4 and mapped available population variation, clinical variants and functional genomics data to produce a complete and comprehensive reference sequence for all 24 human chromosomes.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты