David Porubsky

Jan 29, 2024 | cell.com | David Porubsky |Evan E. Eichler

A rapid banding technique for human chromosomes. Lancet. 1971; 2: 971-972Specific banding patterns of human chromosomes. Proc. Natl. Acad. Sci. USA. 1971; 68: 2073-2077Sumner A.T. Evans H.J. Buckland R.A. New technique for distinguishing between human chromosomes. Nat. New Biol. 1971; 232: 31-32Mechanisms involved in the banding of chromosomes with guinacrine and Giems. II. The interaction of the dyes with the chromosomal components. Exp. Cell Res.

Aug 23, 2023 | nature.com | Arang Rhie |Savannah Hoyt |Dylan Taylor |Nicolas Altemose |Paul W. Hook |Sergey Koren | +37 more

AbstractThe 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 duplications1,2,3. 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.

May 10, 2023 | nature.com | Mitchell R. Vollger |Philip C. Dishuck |Katherine Munson |Glennis A. Logsdon |David Porubsky |Benedict Paten | +1 more

AbstractSingle-nucleotide variants (SNVs) in segmental duplications (SDs) have not been systematically assessed because of the limitations of mapping short-read sequencing data1,2. Here we constructed 1:1 unambiguous alignments spanning high-identity SDs across 102 human haplotypes and compared the pattern of SNVs between unique and duplicated regions3,4.

Mar 7, 2023 | biorxiv.org | Yafei Mao |William Harvey |David Porubsky |Katherine Munson

Thank you for your interest in spreading the word about bioRxiv. NOTE: Your email address is requested solely to identify you as the sender of this article. Your Email * Your Name * Send To * Enter multiple addresses on separate lines or separate them with commas. Message Subject (Your Name) has forwarded a page to you from bioRxiv Message Body (Your Name) thought you would like to see this page from the bioRxiv website.