مورد إلكتروني
Characteristics of de novo structural changes in the human genome.
| العنوان: | Characteristics of de novo structural changes in the human genome. |
|---|---|
| المؤلفون: | Kloosterman, Wigard P |
| المصدر: | Genome research; vol 25, iss 6, 792-801; 1088-9051 |
| بيانات النشر: | eScholarship, University of California 2015-06-01 |
| تفاصيل مُضافة: | Kloosterman, Wigard P Francioli, Laurent C Hormozdiari, Fereydoun Marschall, Tobias Hehir-Kwa, Jayne Y Abdellaoui, Abdel Lameijer, Eric-Wubbo Moed, Matthijs H Koval, Vyacheslav Renkens, Ivo van Roosmalen, Markus J Arp, Pascal Karssen, Lennart C Coe, Bradley P Handsaker, Robert E Suchiman, Eka D Cuppen, Edwin Thung, Djie Tjwan McVey, Mitch Wendl, Michael C Genome of Netherlands Consortium Uitterlinden, André van Duijn, Cornelia M Swertz, Morris A Wijmenga, Cisca van Ommen, GertJan B Slagboom, P Eline Boomsma, Dorret I Schönhuth, Alexander Eichler, Evan E de Bakker, Paul IW Ye, Kai Guryev, Victor |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Small insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease. However, mutation rates and characteristics of de novo indels and SVs in the general population have remained largely unexplored. We report 332 validated de novo structural changes identified in whole genomes of 250 families, including complex indels, retrotransposon insertions, and interchromosomal events. These data indicate a mutation rate of 2.94 indels (1-20 bp) and 0.16 SVs (>20 bp) per generation. De novo structural changes affect on average 4.1 kbp of genomic sequence and 29 coding bases per generation, which is 91 and 52 times more nucleotides than de novo substitutions, respectively. This contrasts with the equal genomic footprint of inherited SVs and substitutions. An excess of structural changes originated on paternal haplotypes. Additionally, we observed a nonuniform distribution of de novo SVs across offspring. These results reveal the importance of different mutational mechanisms to changes in human genome structure across generations. |
| مصطلحات الفهرس: | Genome of Netherlands Consortium, Humans, Retroelements, Sequence Alignment, Sequence Analysis, DNA, Genomics, Amino Acid Sequence, Haplotypes, Polymorphism, Single Nucleotide, Alleles, Genome, Human, Molecular Sequence Data, Female, Male, INDEL Mutation, Genetic Variation, Mutation Rate, Human Genome, Genetics, Biological Sciences, Medical and Health Sciences, Bioinformatics, article |
| URL: | |
| الإتاحة: | Open access content. Open access content public |
| ملاحظة: | application/pdf Genome research vol 25, iss 6, 792-801 1088-9051 |
| أرقام أخرى: | CDLER oai:escholarship.org:ark:/13030/qt1vz5t8mc qt1vz5t8mc https://escholarship.org/uc/item/1vz5t8mcTest https://escholarship.orgTest/ 1377970230 |
| المصدر المساهم: | UC MASS DIGITIZATION From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1377970230 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |