Evan E. Eichler

Jan 8, 2025 | nature.com | Evan E. Eichler

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.

Nov 2, 2023 | cell.com | Karen H Miga |Evan E. Eichler

SummaryAdvances in long-read sequencing and assembly now mean that individual labs can generate phased genomes that are more accurate and more contiguous than the original human reference genome. With declining costs and increasing democratization of technology, we suggest that complete genome assemblies, where both parental haplotypes are phased telomere to telomere, will become standard in human genetics.

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.