Concepedia

Evaluation of targeted next-generation sequencing–based preimplantation genetic diagnosis of monogenic disease

Nathan R. Treff, Anastasia Fedick, Xin Tao, Batsal Devkota, Deanne Taylor, Richard T. Scott

Fertility and Sterility · 2013 · 169 citations · 13 references

DOIFull text

Open access

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13

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text

, , +17

Fast gapped-read alignment with Bowtie 2

Ben Langmead, Steven L. Salzberg · Nature Methods · 2012 · 61.1K citations

, , +11

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

Helga Thorvaldsdóttir, James Robinson, Jill P. Mesirov · Briefings in Bioinformatics · 2012 · 9.8K citations · Full text

, , +15

An integrated semiconductor device enabling non-optical genome sequencing

Jonathan M. Rothberg, Wolfgang Hinz, Todd M. Rearick et al. · Nature · 2011 · 2.2K citations · Full text

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Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification

Alan H. Handyside, E. Kontogianni, Kate Hardy et al. · Nature · 1990 · 1.6K citations

, , +14